Name: rs1801166
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1801166

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:112839543 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: G>A / G>C / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.005973 (1581/264690, TOPMED)
C=0.004384 (1101/251162, GnomAD_exome)
C=0.005696 (799/140272, GnomAD) (+ 13 more)
C=0.004127 (500/121152, ExAC)
C=0.006876 (789/114748, ALFA)
C=0.00442 (348/78698, PAGE_STUDY)
C=0.0028 (18/6404, 1000G_30x)
C=0.0030 (15/5008, 1000G)
C=0.0007 (3/4480, Estonian)
C=0.0065 (25/3854, ALSPAC)
C=0.0097 (36/3708, TWINSUK)
C=0.006 (6/998, GoNL)
C=0.007 (4/534, MGP)
C=0.019 (4/216, Qatari)
G=0.5 (1/2, SGDP_PRJ)
C=0.5 (1/2, SGDP_PRJ)

Clinical Significance: Reported in ClinVar
Gene : Consequence: APC : Stop Gained
Publications: 25 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	114748	G=0.993124	C=0.006876
European	Sub	96984	G=0.99266	C=0.00734
African	Sub	4374	G=0.9925	C=0.0075
African Others	Sub	174	G=0.989	C=0.011
African American	Sub	4200	G=0.9926	C=0.0074
Asian	Sub	3328	G=1.0000	C=0.0000
East Asian	Sub	2672	G=1.0000	C=0.0000
Other Asian	Sub	656	G=1.000	C=0.000
Latin American 1	Sub	790	G=0.995	C=0.005
Latin American 2	Sub	944	G=0.995	C=0.005
South Asian	Sub	274	G=1.000	C=0.000
Other	Sub	8054	G=0.9957	C=0.0043

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	G=0.994027	C=0.005973
gnomAD - Exomes	Global	Study-wide	251162	G=0.995616	C=0.004384
gnomAD - Exomes	European	Sub	135150	G=0.994510	C=0.005490
gnomAD - Exomes	Asian	Sub	48994	G=0.99904	C=0.00096
gnomAD - Exomes	American	Sub	34574	G=0.99598	C=0.00402
gnomAD - Exomes	African	Sub	16250	G=0.99477	C=0.00523
gnomAD - Exomes	Ashkenazi Jewish	Sub	10068	G=0.99493	C=0.00507
gnomAD - Exomes	Other	Sub	6126	G=0.9940	C=0.0060
gnomAD - Genomes	Global	Study-wide	140272	G=0.994304	C=0.005696
gnomAD - Genomes	European	Sub	75956	G=0.99369	C=0.00631
gnomAD - Genomes	African	Sub	42048	G=0.99422	C=0.00578
gnomAD - Genomes	American	Sub	13658	G=0.99634	C=0.00366
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	G=0.9952	C=0.0048
gnomAD - Genomes	East Asian	Sub	3134	G=1.0000	C=0.0000
gnomAD - Genomes	Other	Sub	2152	G=0.9949	C=0.0051
ExAC	Global	Study-wide	121152	G=0.995873	C=0.004127
ExAC	Europe	Sub	73242	G=0.99474	C=0.00526
ExAC	Asian	Sub	25136	G=0.99877	C=0.00123
ExAC	American	Sub	11546	G=0.99723	C=0.00277
ExAC	African	Sub	10324	G=0.99535	C=0.00465
ExAC	Other	Sub	904	G=0.996	C=0.004
Allele Frequency Aggregator	Total	Global	114748	G=0.993124	C=0.006876
Allele Frequency Aggregator	European	Sub	96984	G=0.99266	C=0.00734
Allele Frequency Aggregator	Other	Sub	8054	G=0.9957	C=0.0043
Allele Frequency Aggregator	African	Sub	4374	G=0.9925	C=0.0075
Allele Frequency Aggregator	Asian	Sub	3328	G=1.0000	C=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	944	G=0.995	C=0.005
Allele Frequency Aggregator	Latin American 1	Sub	790	G=0.995	C=0.005
Allele Frequency Aggregator	South Asian	Sub	274	G=1.000	C=0.000
The PAGE Study	Global	Study-wide	78698	G=0.99558	C=0.00442
The PAGE Study	AfricanAmerican	Sub	32516	G=0.99443	C=0.00557
The PAGE Study	Mexican	Sub	10810	G=0.99648	C=0.00352
The PAGE Study	Asian	Sub	8318	G=0.9998	C=0.0002
The PAGE Study	PuertoRican	Sub	7916	G=0.9952	C=0.0048
The PAGE Study	NativeHawaiian	Sub	4534	G=0.9976	C=0.0024
The PAGE Study	Cuban	Sub	4230	G=0.9931	C=0.0069
The PAGE Study	Dominican	Sub	3826	G=0.9948	C=0.0052
The PAGE Study	CentralAmerican	Sub	2450	G=0.9939	C=0.0061
The PAGE Study	SouthAmerican	Sub	1982	G=0.9965	C=0.0035
The PAGE Study	NativeAmerican	Sub	1260	G=0.9944	C=0.0056
The PAGE Study	SouthAsian	Sub	856	G=1.000	C=0.000
1000Genomes_30x	Global	Study-wide	6404	G=0.9972	C=0.0028
1000Genomes_30x	African	Sub	1786	G=0.9972	C=0.0028
1000Genomes_30x	Europe	Sub	1266	G=0.9945	C=0.0055
1000Genomes_30x	South Asian	Sub	1202	G=0.9975	C=0.0025
1000Genomes_30x	East Asian	Sub	1170	G=1.0000	C=0.0000
1000Genomes_30x	American	Sub	980	G=0.997	C=0.003
1000Genomes	Global	Study-wide	5008	G=0.9970	C=0.0030
1000Genomes	African	Sub	1322	G=0.9970	C=0.0030
1000Genomes	East Asian	Sub	1008	G=1.0000	C=0.0000
1000Genomes	Europe	Sub	1006	G=0.9940	C=0.0060
1000Genomes	South Asian	Sub	978	G=0.997	C=0.003
1000Genomes	American	Sub	694	G=0.997	C=0.003
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.9993	C=0.0007
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9935	C=0.0065
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9903	C=0.0097
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.994	C=0.006
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.993	C=0.007
Qatari	Global	Study-wide	216	G=0.981	C=0.019
SGDP_PRJ	Global	Study-wide	2	G=0.5	C=0.5

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 5	NC_000005.10:g.112839543G>A
GRCh38.p14 chr 5	NC_000005.10:g.112839543G>C
GRCh38.p14 chr 5	NC_000005.10:g.112839543G>T
GRCh37.p13 chr 5	NC_000005.9:g.112175240G>A
GRCh37.p13 chr 5	NC_000005.9:g.112175240G>C
GRCh37.p13 chr 5	NC_000005.9:g.112175240G>T
APC RefSeqGene (LRG_130)	NG_008481.4:g.152023G>A
APC RefSeqGene (LRG_130)	NG_008481.4:g.152023G>C
APC RefSeqGene (LRG_130)	NG_008481.4:g.152023G>T

Gene: APC, APC regulator of WNT signaling pathway (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
APC transcript variant 3	NM_000038.6:c.3949G>A	E [GAA] > K [AAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform b	NP_000029.2:p.Glu1317Lys	E (Glu) > K (Lys)	Missense Variant
APC transcript variant 3	NM_000038.6:c.3949G>C	E [GAA] > Q [CAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform b	NP_000029.2:p.Glu1317Gln	E (Glu) > Q (Gln)	Missense Variant
APC transcript variant 3	NM_000038.6:c.3949G>T	E [GAA] > * [TAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform b	NP_000029.2:p.Glu1317Ter	E (Glu) > * (Ter)	Stop Gained
APC transcript variant 15	NM_001354906.2:c.3100G>A	E [GAA] > K [AAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform m	NP_001341835.1:p.Glu1034L… NP_001341835.1:p.Glu1034Lys	E (Glu) > K (Lys)	Missense Variant
APC transcript variant 15	NM_001354906.2:c.3100G>C	E [GAA] > Q [CAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform m	NP_001341835.1:p.Glu1034G… NP_001341835.1:p.Glu1034Gln	E (Glu) > Q (Gln)	Missense Variant
APC transcript variant 15	NM_001354906.2:c.3100G>T	E [GAA] > * [TAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform m	NP_001341835.1:p.Glu1034T… NP_001341835.1:p.Glu1034Ter	E (Glu) > * (Ter)	Stop Gained
APC transcript variant 13	NM_001354904.2:c.3571G>A	E [GAA] > K [AAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform k	NP_001341833.1:p.Glu1191L… NP_001341833.1:p.Glu1191Lys	E (Glu) > K (Lys)	Missense Variant
APC transcript variant 13	NM_001354904.2:c.3571G>C	E [GAA] > Q [CAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform k	NP_001341833.1:p.Glu1191G… NP_001341833.1:p.Glu1191Gln	E (Glu) > Q (Gln)	Missense Variant
APC transcript variant 13	NM_001354904.2:c.3571G>T	E [GAA] > * [TAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform k	NP_001341833.1:p.Glu1191T… NP_001341833.1:p.Glu1191Ter	E (Glu) > * (Ter)	Stop Gained
APC transcript variant 6	NM_001354897.2:c.3979G>A	E [GAA] > K [AAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform d	NP_001341826.1:p.Glu1327L… NP_001341826.1:p.Glu1327Lys	E (Glu) > K (Lys)	Missense Variant
APC transcript variant 6	NM_001354897.2:c.3979G>C	E [GAA] > Q [CAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform d	NP_001341826.1:p.Glu1327G… NP_001341826.1:p.Glu1327Gln	E (Glu) > Q (Gln)	Missense Variant
APC transcript variant 6	NM_001354897.2:c.3979G>T	E [GAA] > * [TAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform d	NP_001341826.1:p.Glu1327T… NP_001341826.1:p.Glu1327Ter	E (Glu) > * (Ter)	Stop Gained
APC transcript variant 11	NM_001354902.2:c.3676G>A	E [GAA] > K [AAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform i	NP_001341831.1:p.Glu1226L… NP_001341831.1:p.Glu1226Lys	E (Glu) > K (Lys)	Missense Variant
APC transcript variant 11	NM_001354902.2:c.3676G>C	E [GAA] > Q [CAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform i	NP_001341831.1:p.Glu1226G… NP_001341831.1:p.Glu1226Gln	E (Glu) > Q (Gln)	Missense Variant
APC transcript variant 11	NM_001354902.2:c.3676G>T	E [GAA] > * [TAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform i	NP_001341831.1:p.Glu1226T… NP_001341831.1:p.Glu1226Ter	E (Glu) > * (Ter)	Stop Gained
APC transcript variant 14	NM_001354905.2:c.3469G>A	E [GAA] > K [AAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform l	NP_001341834.1:p.Glu1157L… NP_001341834.1:p.Glu1157Lys	E (Glu) > K (Lys)	Missense Variant
APC transcript variant 14	NM_001354905.2:c.3469G>C	E [GAA] > Q [CAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform l	NP_001341834.1:p.Glu1157G… NP_001341834.1:p.Glu1157Gln	E (Glu) > Q (Gln)	Missense Variant
APC transcript variant 14	NM_001354905.2:c.3469G>T	E [GAA] > * [TAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform l	NP_001341834.1:p.Glu1157T… NP_001341834.1:p.Glu1157Ter	E (Glu) > * (Ter)	Stop Gained
APC transcript variant 4	NM_001354895.2:c.3949G>A	E [GAA] > K [AAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform b	NP_001341824.1:p.Glu1317L… NP_001341824.1:p.Glu1317Lys	E (Glu) > K (Lys)	Missense Variant
APC transcript variant 4	NM_001354895.2:c.3949G>C	E [GAA] > Q [CAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform b	NP_001341824.1:p.Glu1317G… NP_001341824.1:p.Glu1317Gln	E (Glu) > Q (Gln)	Missense Variant
APC transcript variant 4	NM_001354895.2:c.3949G>T	E [GAA] > * [TAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform b	NP_001341824.1:p.Glu1317T… NP_001341824.1:p.Glu1317Ter	E (Glu) > * (Ter)	Stop Gained
APC transcript variant 7	NM_001354898.2:c.3874G>A	E [GAA] > K [AAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform e	NP_001341827.1:p.Glu1292L… NP_001341827.1:p.Glu1292Lys	E (Glu) > K (Lys)	Missense Variant
APC transcript variant 7	NM_001354898.2:c.3874G>C	E [GAA] > Q [CAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform e	NP_001341827.1:p.Glu1292G… NP_001341827.1:p.Glu1292Gln	E (Glu) > Q (Gln)	Missense Variant
APC transcript variant 7	NM_001354898.2:c.3874G>T	E [GAA] > * [TAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform e	NP_001341827.1:p.Glu1292T… NP_001341827.1:p.Glu1292Ter	E (Glu) > * (Ter)	Stop Gained
APC transcript variant 5	NM_001354896.2:c.4003G>A	E [GAA] > K [AAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform c	NP_001341825.1:p.Glu1335L… NP_001341825.1:p.Glu1335Lys	E (Glu) > K (Lys)	Missense Variant
APC transcript variant 5	NM_001354896.2:c.4003G>C	E [GAA] > Q [CAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform c	NP_001341825.1:p.Glu1335G… NP_001341825.1:p.Glu1335Gln	E (Glu) > Q (Gln)	Missense Variant
APC transcript variant 5	NM_001354896.2:c.4003G>T	E [GAA] > * [TAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform c	NP_001341825.1:p.Glu1335T… NP_001341825.1:p.Glu1335Ter	E (Glu) > * (Ter)	Stop Gained
APC transcript variant 10	NM_001354901.2:c.3772G>A	E [GAA] > K [AAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform h	NP_001341830.1:p.Glu1258L… NP_001341830.1:p.Glu1258Lys	E (Glu) > K (Lys)	Missense Variant
APC transcript variant 10	NM_001354901.2:c.3772G>C	E [GAA] > Q [CAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform h	NP_001341830.1:p.Glu1258G… NP_001341830.1:p.Glu1258Gln	E (Glu) > Q (Gln)	Missense Variant
APC transcript variant 10	NM_001354901.2:c.3772G>T	E [GAA] > * [TAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform h	NP_001341830.1:p.Glu1258T… NP_001341830.1:p.Glu1258Ter	E (Glu) > * (Ter)	Stop Gained
APC transcript variant 9	NM_001354900.2:c.3826G>A	E [GAA] > K [AAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform g	NP_001341829.1:p.Glu1276L… NP_001341829.1:p.Glu1276Lys	E (Glu) > K (Lys)	Missense Variant
APC transcript variant 9	NM_001354900.2:c.3826G>C	E [GAA] > Q [CAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform g	NP_001341829.1:p.Glu1276G… NP_001341829.1:p.Glu1276Gln	E (Glu) > Q (Gln)	Missense Variant
APC transcript variant 9	NM_001354900.2:c.3826G>T	E [GAA] > * [TAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform g	NP_001341829.1:p.Glu1276T… NP_001341829.1:p.Glu1276Ter	E (Glu) > * (Ter)	Stop Gained
APC transcript variant 8	NM_001354899.2:c.3865G>A	E [GAA] > K [AAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform f	NP_001341828.1:p.Glu1289L… NP_001341828.1:p.Glu1289Lys	E (Glu) > K (Lys)	Missense Variant
APC transcript variant 8	NM_001354899.2:c.3865G>C	E [GAA] > Q [CAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform f	NP_001341828.1:p.Glu1289G… NP_001341828.1:p.Glu1289Gln	E (Glu) > Q (Gln)	Missense Variant
APC transcript variant 8	NM_001354899.2:c.3865G>T	E [GAA] > * [TAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform f	NP_001341828.1:p.Glu1289T… NP_001341828.1:p.Glu1289Ter	E (Glu) > * (Ter)	Stop Gained
APC transcript variant 12	NM_001354903.2:c.3646G>A	E [GAA] > K [AAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform j	NP_001341832.1:p.Glu1216L… NP_001341832.1:p.Glu1216Lys	E (Glu) > K (Lys)	Missense Variant
APC transcript variant 12	NM_001354903.2:c.3646G>C	E [GAA] > Q [CAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform j	NP_001341832.1:p.Glu1216G… NP_001341832.1:p.Glu1216Gln	E (Glu) > Q (Gln)	Missense Variant
APC transcript variant 12	NM_001354903.2:c.3646G>T	E [GAA] > * [TAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform j	NP_001341832.1:p.Glu1216T… NP_001341832.1:p.Glu1216Ter	E (Glu) > * (Ter)	Stop Gained
APC transcript variant 2	NM_001127510.3:c.3949G>A	E [GAA] > K [AAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform b	NP_001120982.1:p.Glu1317L… NP_001120982.1:p.Glu1317Lys	E (Glu) > K (Lys)	Missense Variant
APC transcript variant 2	NM_001127510.3:c.3949G>C	E [GAA] > Q [CAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform b	NP_001120982.1:p.Glu1317G… NP_001120982.1:p.Glu1317Gln	E (Glu) > Q (Gln)	Missense Variant
APC transcript variant 2	NM_001127510.3:c.3949G>T	E [GAA] > * [TAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform b	NP_001120982.1:p.Glu1317T… NP_001120982.1:p.Glu1317Ter	E (Glu) > * (Ter)	Stop Gained
APC transcript variant 1	NM_001127511.3:c.3895G>A	E [GAA] > K [AAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform a	NP_001120983.2:p.Glu1299L… NP_001120983.2:p.Glu1299Lys	E (Glu) > K (Lys)	Missense Variant
APC transcript variant 1	NM_001127511.3:c.3895G>C	E [GAA] > Q [CAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform a	NP_001120983.2:p.Glu1299G… NP_001120983.2:p.Glu1299Gln	E (Glu) > Q (Gln)	Missense Variant
APC transcript variant 1	NM_001127511.3:c.3895G>T	E [GAA] > * [TAA]	Coding Sequence Variant
adenomatous polyposis coli protein isoform a	NP_001120983.2:p.Glu1299T… NP_001120983.2:p.Glu1299Ter	E (Glu) > * (Ter)	Stop Gained

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: C (allele ID: 15868 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000000872.22	Familial adenomatous polyposis 1	Conflicting-Interpretations-Of-Pathogenicity
RCV000034389.23	not provided	Conflicting-Interpretations-Of-Pathogenicity
RCV000035073.25	not specified	Benign
RCV000322880.4	APC-Associated Polyposis Disorders	Benign
RCV000579405.5	Hereditary cancer-predisposing syndrome	Benign-Likely-Benign
RCV001353725.2	Carcinoma of colon	Benign
RCV001762027.2	Colorectal cancer	Likely-Benign
RCV002227982.4	Familial adenomatous polyposis 1	Benign

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	G=	A	C	T
GRCh38.p14 chr 5	NC_000005.10:g.112839543=	NC_000005.10:g.112839543G>A	NC_000005.10:g.112839543G>C	NC_000005.10:g.112839543G>T
GRCh37.p13 chr 5	NC_000005.9:g.112175240=	NC_000005.9:g.112175240G>A	NC_000005.9:g.112175240G>C	NC_000005.9:g.112175240G>T
APC RefSeqGene (LRG_130)	NG_008481.4:g.152023=	NG_008481.4:g.152023G>A	NG_008481.4:g.152023G>C	NG_008481.4:g.152023G>T
APC transcript variant 3	NM_000038.6:c.3949=	NM_000038.6:c.3949G>A	NM_000038.6:c.3949G>C	NM_000038.6:c.3949G>T
APC transcript variant 3	NM_000038.5:c.3949=	NM_000038.5:c.3949G>A	NM_000038.5:c.3949G>C	NM_000038.5:c.3949G>T
APC transcript variant 2	NM_001127510.3:c.3949=	NM_001127510.3:c.3949G>A	NM_001127510.3:c.3949G>C	NM_001127510.3:c.3949G>T
APC transcript variant 2	NM_001127510.2:c.3949=	NM_001127510.2:c.3949G>A	NM_001127510.2:c.3949G>C	NM_001127510.2:c.3949G>T
APC transcript variant 1	NM_001127511.3:c.3895=	NM_001127511.3:c.3895G>A	NM_001127511.3:c.3895G>C	NM_001127511.3:c.3895G>T
APC transcript variant 1	NM_001127511.2:c.3895=	NM_001127511.2:c.3895G>A	NM_001127511.2:c.3895G>C	NM_001127511.2:c.3895G>T
APC transcript variant 4	NM_001354895.2:c.3949=	NM_001354895.2:c.3949G>A	NM_001354895.2:c.3949G>C	NM_001354895.2:c.3949G>T
APC transcript variant 4	NM_001354895.1:c.3949=	NM_001354895.1:c.3949G>A	NM_001354895.1:c.3949G>C	NM_001354895.1:c.3949G>T
APC transcript variant 6	NM_001354897.2:c.3979=	NM_001354897.2:c.3979G>A	NM_001354897.2:c.3979G>C	NM_001354897.2:c.3979G>T
APC transcript variant 6	NM_001354897.1:c.3979=	NM_001354897.1:c.3979G>A	NM_001354897.1:c.3979G>C	NM_001354897.1:c.3979G>T
APC transcript variant 15	NM_001354906.2:c.3100=	NM_001354906.2:c.3100G>A	NM_001354906.2:c.3100G>C	NM_001354906.2:c.3100G>T
APC transcript variant 15	NM_001354906.1:c.3100=	NM_001354906.1:c.3100G>A	NM_001354906.1:c.3100G>C	NM_001354906.1:c.3100G>T
APC transcript variant 5	NM_001354896.2:c.4003=	NM_001354896.2:c.4003G>A	NM_001354896.2:c.4003G>C	NM_001354896.2:c.4003G>T
APC transcript variant 5	NM_001354896.1:c.4003=	NM_001354896.1:c.4003G>A	NM_001354896.1:c.4003G>C	NM_001354896.1:c.4003G>T
APC transcript variant 7	NM_001354898.2:c.3874=	NM_001354898.2:c.3874G>A	NM_001354898.2:c.3874G>C	NM_001354898.2:c.3874G>T
APC transcript variant 7	NM_001354898.1:c.3874=	NM_001354898.1:c.3874G>A	NM_001354898.1:c.3874G>C	NM_001354898.1:c.3874G>T
APC transcript variant 8	NM_001354899.2:c.3865=	NM_001354899.2:c.3865G>A	NM_001354899.2:c.3865G>C	NM_001354899.2:c.3865G>T
APC transcript variant 8	NM_001354899.1:c.3865=	NM_001354899.1:c.3865G>A	NM_001354899.1:c.3865G>C	NM_001354899.1:c.3865G>T
APC transcript variant 9	NM_001354900.2:c.3826=	NM_001354900.2:c.3826G>A	NM_001354900.2:c.3826G>C	NM_001354900.2:c.3826G>T
APC transcript variant 9	NM_001354900.1:c.3826=	NM_001354900.1:c.3826G>A	NM_001354900.1:c.3826G>C	NM_001354900.1:c.3826G>T
APC transcript variant 11	NM_001354902.2:c.3676=	NM_001354902.2:c.3676G>A	NM_001354902.2:c.3676G>C	NM_001354902.2:c.3676G>T
APC transcript variant 11	NM_001354902.1:c.3676=	NM_001354902.1:c.3676G>A	NM_001354902.1:c.3676G>C	NM_001354902.1:c.3676G>T
APC transcript variant 10	NM_001354901.2:c.3772=	NM_001354901.2:c.3772G>A	NM_001354901.2:c.3772G>C	NM_001354901.2:c.3772G>T
APC transcript variant 10	NM_001354901.1:c.3772=	NM_001354901.1:c.3772G>A	NM_001354901.1:c.3772G>C	NM_001354901.1:c.3772G>T
APC transcript variant 12	NM_001354903.2:c.3646=	NM_001354903.2:c.3646G>A	NM_001354903.2:c.3646G>C	NM_001354903.2:c.3646G>T
APC transcript variant 12	NM_001354903.1:c.3646=	NM_001354903.1:c.3646G>A	NM_001354903.1:c.3646G>C	NM_001354903.1:c.3646G>T
APC transcript variant 13	NM_001354904.2:c.3571=	NM_001354904.2:c.3571G>A	NM_001354904.2:c.3571G>C	NM_001354904.2:c.3571G>T
APC transcript variant 13	NM_001354904.1:c.3571=	NM_001354904.1:c.3571G>A	NM_001354904.1:c.3571G>C	NM_001354904.1:c.3571G>T
APC transcript variant 14	NM_001354905.2:c.3469=	NM_001354905.2:c.3469G>A	NM_001354905.2:c.3469G>C	NM_001354905.2:c.3469G>T
APC transcript variant 14	NM_001354905.1:c.3469=	NM_001354905.1:c.3469G>A	NM_001354905.1:c.3469G>C	NM_001354905.1:c.3469G>T
APC transcript variant 33	NM_001407470.1:c.3100=	NM_001407470.1:c.3100G>A	NM_001407470.1:c.3100G>C	NM_001407470.1:c.3100G>T
APC transcript variant 17	NM_001407447.1:c.4003=	NM_001407447.1:c.4003G>A	NM_001407447.1:c.4003G>C	NM_001407447.1:c.4003G>T
APC transcript variant 22	NM_001407452.1:c.3919=	NM_001407452.1:c.3919G>A	NM_001407452.1:c.3919G>C	NM_001407452.1:c.3919G>T
APC transcript variant 16	NM_001407446.1:c.4033=	NM_001407446.1:c.4033G>A	NM_001407446.1:c.4033G>C	NM_001407446.1:c.4033G>T
APC transcript variant 35	NM_001407472.1:c.2797=	NM_001407472.1:c.2797G>A	NM_001407472.1:c.2797G>C	NM_001407472.1:c.2797G>T
APC transcript variant 37	NR_176366.1:n.4203=	NR_176366.1:n.4203G>A	NR_176366.1:n.4203G>C	NR_176366.1:n.4203G>T
APC transcript variant 18	NM_001407448.1:c.4003=	NM_001407448.1:c.4003G>A	NM_001407448.1:c.4003G>C	NM_001407448.1:c.4003G>T
APC transcript variant 19	NM_001407449.1:c.4003=	NM_001407449.1:c.4003G>A	NM_001407449.1:c.4003G>C	NM_001407449.1:c.4003G>T
APC transcript variant 20	NM_001407450.1:c.3949=	NM_001407450.1:c.3949G>A	NM_001407450.1:c.3949G>C	NM_001407450.1:c.3949G>T
APC transcript variant 26	NM_001407456.1:c.3700=	NM_001407456.1:c.3700G>A	NM_001407456.1:c.3700G>C	NM_001407456.1:c.3700G>T
APC transcript variant 30	NM_001407460.1:c.3646=	NM_001407460.1:c.3646G>A	NM_001407460.1:c.3646G>C	NM_001407460.1:c.3646G>T
APC transcript variant 21	NM_001407451.1:c.3928=	NM_001407451.1:c.3928G>A	NM_001407451.1:c.3928G>C	NM_001407451.1:c.3928G>T
APC transcript variant 23	NM_001407453.1:c.3772=	NM_001407453.1:c.3772G>A	NM_001407453.1:c.3772G>C	NM_001407453.1:c.3772G>T
APC transcript variant 32	NM_001407469.1:c.3562=	NM_001407469.1:c.3562G>A	NM_001407469.1:c.3562G>C	NM_001407469.1:c.3562G>T
APC transcript variant 34	NM_001407471.1:c.2797=	NM_001407471.1:c.2797G>A	NM_001407471.1:c.2797G>C	NM_001407471.1:c.2797G>T
APC transcript variant 27	NM_001407457.1:c.3700=	NM_001407457.1:c.3700G>A	NM_001407457.1:c.3700G>C	NM_001407457.1:c.3700G>T
APC transcript variant 25	NM_001407455.1:c.3700=	NM_001407455.1:c.3700G>A	NM_001407455.1:c.3700G>C	NM_001407455.1:c.3700G>T
APC transcript variant 28	NM_001407458.1:c.3646=	NM_001407458.1:c.3646G>A	NM_001407458.1:c.3646G>C	NM_001407458.1:c.3646G>T
APC transcript variant 29	NM_001407459.1:c.3646=	NM_001407459.1:c.3646G>A	NM_001407459.1:c.3646G>C	NM_001407459.1:c.3646G>T
APC transcript variant 36	NR_176365.1:n.3784=	NR_176365.1:n.3784G>A	NR_176365.1:n.3784G>C	NR_176365.1:n.3784G>T
APC transcript variant 24	NM_001407454.1:c.3700=	NM_001407454.1:c.3700G>A	NM_001407454.1:c.3700G>C	NM_001407454.1:c.3700G>T
APC transcript variant 31	NM_001407467.1:c.3562=	NM_001407467.1:c.3562G>A	NM_001407467.1:c.3562G>C	NM_001407467.1:c.3562G>T
adenomatous polyposis coli protein isoform b	NP_000029.2:p.Glu1317=	NP_000029.2:p.Glu1317Lys	NP_000029.2:p.Glu1317Gln	NP_000029.2:p.Glu1317Ter
adenomatous polyposis coli protein isoform b	NP_001120982.1:p.Glu1317=	NP_001120982.1:p.Glu1317Lys	NP_001120982.1:p.Glu1317Gln	NP_001120982.1:p.Glu1317Ter
adenomatous polyposis coli protein isoform a	NP_001120983.2:p.Glu1299=	NP_001120983.2:p.Glu1299Lys	NP_001120983.2:p.Glu1299Gln	NP_001120983.2:p.Glu1299Ter
adenomatous polyposis coli protein isoform b	NP_001341824.1:p.Glu1317=	NP_001341824.1:p.Glu1317Lys	NP_001341824.1:p.Glu1317Gln	NP_001341824.1:p.Glu1317Ter
adenomatous polyposis coli protein isoform d	NP_001341826.1:p.Glu1327=	NP_001341826.1:p.Glu1327Lys	NP_001341826.1:p.Glu1327Gln	NP_001341826.1:p.Glu1327Ter
adenomatous polyposis coli protein isoform m	NP_001341835.1:p.Glu1034=	NP_001341835.1:p.Glu1034Lys	NP_001341835.1:p.Glu1034Gln	NP_001341835.1:p.Glu1034Ter
adenomatous polyposis coli protein isoform c	NP_001341825.1:p.Glu1335=	NP_001341825.1:p.Glu1335Lys	NP_001341825.1:p.Glu1335Gln	NP_001341825.1:p.Glu1335Ter
adenomatous polyposis coli protein isoform e	NP_001341827.1:p.Glu1292=	NP_001341827.1:p.Glu1292Lys	NP_001341827.1:p.Glu1292Gln	NP_001341827.1:p.Glu1292Ter
adenomatous polyposis coli protein isoform f	NP_001341828.1:p.Glu1289=	NP_001341828.1:p.Glu1289Lys	NP_001341828.1:p.Glu1289Gln	NP_001341828.1:p.Glu1289Ter
adenomatous polyposis coli protein isoform g	NP_001341829.1:p.Glu1276=	NP_001341829.1:p.Glu1276Lys	NP_001341829.1:p.Glu1276Gln	NP_001341829.1:p.Glu1276Ter
adenomatous polyposis coli protein isoform i	NP_001341831.1:p.Glu1226=	NP_001341831.1:p.Glu1226Lys	NP_001341831.1:p.Glu1226Gln	NP_001341831.1:p.Glu1226Ter
adenomatous polyposis coli protein isoform h	NP_001341830.1:p.Glu1258=	NP_001341830.1:p.Glu1258Lys	NP_001341830.1:p.Glu1258Gln	NP_001341830.1:p.Glu1258Ter
adenomatous polyposis coli protein isoform j	NP_001341832.1:p.Glu1216=	NP_001341832.1:p.Glu1216Lys	NP_001341832.1:p.Glu1216Gln	NP_001341832.1:p.Glu1216Ter
adenomatous polyposis coli protein isoform k	NP_001341833.1:p.Glu1191=	NP_001341833.1:p.Glu1191Lys	NP_001341833.1:p.Glu1191Gln	NP_001341833.1:p.Glu1191Ter
adenomatous polyposis coli protein isoform l	NP_001341834.1:p.Glu1157=	NP_001341834.1:p.Glu1157Lys	NP_001341834.1:p.Glu1157Gln	NP_001341834.1:p.Glu1157Ter

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

71 SubSNP, 15 Frequency, 8 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	HGBASE	ss2421387	Nov 14, 2000 (89)
2	AFFY	ss74817429	Aug 16, 2007 (128)
3	GENEREVIEWS	ss179362417	Nov 18, 2009 (131)
4	CANCER-GENOME	ss181340303	Jul 04, 2010 (132)
5	1000GENOMES	ss332713746	May 09, 2011 (134)
6	NHLBI-ESP	ss342186071	May 09, 2011 (134)
7	OMIM-CURATED-RECORDS	ss342562993	Mar 30, 2011 (136)
8	1000GENOMES	ss490908256	May 04, 2012 (137)
9	EXOME_CHIP	ss491369632	May 04, 2012 (137)
10	CLINSEQ_SNP	ss491870793	May 04, 2012 (137)
11	ILLUMINA	ss535271670	Sep 08, 2015 (146)
12	TISHKOFF	ss558625124	Apr 25, 2013 (138)
13	ILLUMINA	ss780839521	Sep 08, 2015 (146)
14	ILLUMINA	ss783522747	Sep 08, 2015 (146)
15	EVA-GONL	ss981972850	Aug 21, 2014 (142)
16	1000GENOMES	ss1316648344	Aug 21, 2014 (142)
17	EVA_DECODE	ss1591494996	Apr 01, 2015 (144)
18	EVA_UK10K_ALSPAC	ss1613707429	Apr 01, 2015 (144)
19	EVA_UK10K_TWINSUK	ss1656701462	Apr 01, 2015 (144)
20	EVA_EXAC	ss1687906825	Apr 01, 2015 (144)
21	EVA_MGP	ss1711094555	Apr 01, 2015 (144)
22	ILLUMINA	ss1752542550	Sep 08, 2015 (146)
23	ILLUMINA	ss1917792698	Feb 12, 2016 (147)
24	WEILL_CORNELL_DGM	ss1925227140	Feb 12, 2016 (147)
25	ILLUMINA	ss1946152125	Feb 12, 2016 (147)
26	ILLUMINA	ss1958812869	Feb 12, 2016 (147)
27	GENOMED	ss1966658504	Feb 12, 2016 (147)
28	JJLAB	ss2023219933	Sep 14, 2016 (149)
29	HUMAN_LONGEVITY	ss2276957110	Dec 20, 2016 (150)
30	GNOMAD	ss2735155538	Nov 08, 2017 (151)
31	GNOMAD	ss2747430832	Nov 08, 2017 (151)
32	GNOMAD	ss2829156924	Nov 08, 2017 (151)
33	AFFY	ss2985331335	Nov 08, 2017 (151)
34	SWEGEN	ss2997566152	Nov 08, 2017 (151)
35	ILLUMINA	ss3022518239	Nov 08, 2017 (151)
36	ILLUMINA	ss3629312397	Oct 12, 2018 (152)
37	ILLUMINA	ss3629312398	Oct 12, 2018 (152)
38	ILLUMINA	ss3635016456	Oct 12, 2018 (152)
39	ILLUMINA	ss3640723750	Oct 12, 2018 (152)
40	ILLUMINA	ss3644885116	Oct 12, 2018 (152)
41	ILLUMINA	ss3653018268	Oct 12, 2018 (152)
42	ILLUMINA	ss3654103503	Oct 12, 2018 (152)
43	EGCUT_WGS	ss3665466749	Jul 13, 2019 (153)
44	EVA_DECODE	ss3715429938	Jul 13, 2019 (153)
45	ILLUMINA	ss3726259996	Jul 13, 2019 (153)
46	ILLUMINA	ss3744538527	Jul 13, 2019 (153)
47	ILLUMINA	ss3745316670	Jul 13, 2019 (153)
48	PAGE_CC	ss3771223250	Jul 13, 2019 (153)
49	ILLUMINA	ss3772810716	Jul 13, 2019 (153)
50	EVA	ss3824102798	Apr 26, 2020 (154)
51	EVA	ss3825677801	Apr 26, 2020 (154)
52	SGDP_PRJ	ss3862680504	Apr 26, 2020 (154)
53	FSA-LAB	ss3984313021	Apr 26, 2021 (155)
54	EVA	ss3986315306	Apr 26, 2021 (155)
55	TOPMED	ss4673759390	Apr 26, 2021 (155)
56	EVA	ss5237644080	Oct 17, 2022 (156)
57	1000G_HIGH_COVERAGE	ss5265346010	Oct 17, 2022 (156)
58	EVA	ss5360061432	Oct 17, 2022 (156)
59	HUGCELL_USP	ss5463365950	Oct 17, 2022 (156)
60	1000G_HIGH_COVERAGE	ss5549735047	Oct 17, 2022 (156)
61	EVA	ss5623891797	Oct 17, 2022 (156)
62	SANFORD_IMAGENETICS	ss5624598203	Oct 17, 2022 (156)
63	SANFORD_IMAGENETICS	ss5638594675	Oct 17, 2022 (156)
64	EVA	ss5835451147	Oct 17, 2022 (156)
65	EVA	ss5847272204	Oct 17, 2022 (156)
66	EVA	ss5848060203	Oct 17, 2022 (156)
67	EVA	ss5848632261	Oct 17, 2022 (156)
68	EVA	ss5895747188	Oct 17, 2022 (156)
69	EVA	ss5935767355	Oct 17, 2022 (156)
70	EVA	ss5967046532	Oct 17, 2022 (156)
71	EVA	ss5979750418	Oct 17, 2022 (156)
72	1000Genomes	NC_000005.9 - 112175240	Oct 12, 2018 (152)
73	1000Genomes_30x	NC_000005.10 - 112839543	Oct 17, 2022 (156)
74	The Avon Longitudinal Study of Parents and Children	NC_000005.9 - 112175240	Oct 12, 2018 (152)
75	Genetic variation in the Estonian population	NC_000005.9 - 112175240	Oct 12, 2018 (152)
76	ExAC	NC_000005.9 - 112175240	Oct 12, 2018 (152)
77	gnomAD - Genomes	NC_000005.10 - 112839543	Apr 26, 2021 (155)
78	gnomAD - Exomes	NC_000005.9 - 112175240	Jul 13, 2019 (153)
79	Genome of the Netherlands Release 5	NC_000005.9 - 112175240	Apr 26, 2020 (154)
80	Medical Genome Project healthy controls from Spanish population	NC_000005.9 - 112175240	Apr 26, 2020 (154)
81	The PAGE Study	NC_000005.10 - 112839543	Jul 13, 2019 (153)
82	Qatari	NC_000005.9 - 112175240	Apr 26, 2020 (154)
83	SGDP_PRJ	NC_000005.9 - 112175240	Apr 26, 2020 (154)
84	TopMed	NC_000005.10 - 112839543	Apr 26, 2021 (155)
85	UK 10K study - Twins	NC_000005.9 - 112175240	Oct 12, 2018 (152)
86	ALFA	NC_000005.10 - 112839543	Apr 26, 2021 (155)
87	ClinVar	RCV000000872.22	Oct 17, 2022 (156)
88	ClinVar	RCV000034389.23	Oct 17, 2022 (156)
89	ClinVar	RCV000035073.25	Oct 17, 2022 (156)
90	ClinVar	RCV000322880.4	Oct 17, 2022 (156)
91	ClinVar	RCV000579405.5	Oct 17, 2022 (156)
92	ClinVar	RCV001353725.2	Oct 17, 2022 (156)
93	ClinVar	RCV001762027.2	Oct 17, 2022 (156)
94	ClinVar	RCV002227982.4	Oct 17, 2022 (156)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs52811293	Sep 21, 2007 (128)
rs137854581	Mar 28, 2012 (136)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5935767355	NC_000005.9:112175239:G:A	NC_000005.10:112839542:G:A
ss491870793, ss1591494996	NC_000005.8:112203138:G:C	NC_000005.10:112839542:G:C	(self)
28307039, 15739842, 11204997, 7906566, 4276386, 6995287, 210315, 7269070, 14697484, 15739842, ss332713746, ss342186071, ss490908256, ss491369632, ss535271670, ss558625124, ss780839521, ss783522747, ss981972850, ss1316648344, ss1613707429, ss1656701462, ss1687906825, ss1711094555, ss1752542550, ss1917792698, ss1925227140, ss1946152125, ss1958812869, ss1966658504, ss2023219933, ss2735155538, ss2747430832, ss2829156924, ss2985331335, ss2997566152, ss3022518239, ss3629312397, ss3629312398, ss3635016456, ss3640723750, ss3644885116, ss3653018268, ss3654103503, ss3665466749, ss3744538527, ss3745316670, ss3772810716, ss3824102798, ss3825677801, ss3862680504, ss3984313021, ss3986315306, ss5360061432, ss5623891797, ss5624598203, ss5638594675, ss5835451147, ss5847272204, ss5848060203, ss5848632261, ss5935767355, ss5967046532, ss5979750418	NC_000005.9:112175239:G:C	NC_000005.10:112839542:G:C	(self)
RCV000000872.22, RCV000034389.23, RCV000035073.25, RCV000322880.4, RCV000579405.5, RCV001353725.2, RCV001762027.2, RCV002227982.4, 37260982, 200249433, 444719, 511136947, 8623851249, ss179362417, ss342562993, ss2276957110, ss3715429938, ss3726259996, ss3771223250, ss4673759390, ss5237644080, ss5265346010, ss5463365950, ss5549735047, ss5895747188	NC_000005.10:112839542:G:C	NC_000005.10:112839542:G:C	(self)
ss2421387, ss74817429, ss181340303	NT_034772.6:20489111:G:C	NC_000005.10:112839542:G:C	(self)
ss5935767355	NC_000005.9:112175239:G:T	NC_000005.10:112839542:G:T

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

25 citations for rs1801166

PMID	Title	Author	Year	Journal
8834176	Germline APC mutation (Gln1317) in a cancer-prone family that does not result in familial adenomatous polyposis.	White S et al.	1996	Genes, chromosomes & cancer
9724771	The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.	Frayling IM et al.	1998	Proceedings of the National Academy of Sciences of the United States of America
10737725	Prevalence of the APC E1317Q variant in colorectal cancer patients.	Popat S et al.	2000	Cancer letters
11001924	Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q.	Lamlum H et al.	2000	Human molecular genetics
12173026	Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD).	Michils G et al.	2002	European journal of human genetics
14578138	The APC E1317Q variant in adenomatous polyps and colorectal cancers.	Hahnloser D et al.	2003	Cancer epidemiology, biomarkers & prevention
16134147	Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli.	Aceto G et al.	2005	Human mutation
17119068	APC E1317Q is not associated with Colorectal Cancer in a population-based case-control study in Northern Israel.	Rozek LS et al.	2006	Cancer epidemiology, biomarkers & prevention
17920230	The APC E1317Q and I1307K polymorphisms in non-colorectal cancers.	Liberman E et al.	2007	Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie
18199528	Multiple rare nonsynonymous variants in the adenomatous polyposis coli gene predispose to colorectal adenomas.	Azzopardi D et al.	2008	Cancer research
19029688	APC gene mutations causing familial adenomatous polyposis in Polish patients.	Plawski A et al.	2008	Journal of applied genetics
19474113	Risk of colorectal neoplasia associated with the adenomatous polyposis coli E1317Q variant.	Hall MJ et al.	2009	Annals of oncology
19701947	The APC Variant p.Glu1317Gln predisposes to colorectal adenomas by a novel mechanism of relaxing the target for tumorigenic somatic APC mutations.	Dallosso AR et al.	2009	Human mutation
19888426	Analysis of candidate genes in occurrence and growth of colorectal adenomas.	Olschwang S et al.	2009	Journal of oncology
20301519	APC-Associated Polyposis Conditions.	Yen T et al.	1993	GeneReviews(®)
21995949	Increased variance in germline allele-specific expression of APC associates with colorectal cancer.	Curia MC et al.	2012	Gastroenterology
22703879	Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.	Johnston JJ et al.	2012	American journal of human genetics
23159591	APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests.	Kerr SE et al.	2013	The Journal of molecular diagnostics
23576677	APC polymorphisms and the risk of colorectal neoplasia: a HuGE review and meta-analysis.	Liang J et al.	2013	American journal of epidemiology
24297550	PATH-SCAN: a reporting tool for identifying clinically actionable variants.	Daneshjou R et al.	2014	Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing
24728327	Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.	Bodian DL et al.	2014	PloS one
25333069	Disease variants in genomes of 44 centenarians.	Freudenberg-Hua Y et al.	2014	Molecular genetics & genomic medicine
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine
26314409	Association of APC I1307K and E1317Q polymorphisms with colorectal cancer among Egyptian subjects.	Abdel-Malak C et al.	2016	Familial cancer
30581350	Association between MTHFR 677C>T Polymorphism and Vitamin B12 Deficiency: A Case-control Study.	Al-Batayneh KM et al.	2018	Journal of medical biochemistry

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

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Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

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Reference SNP (rs) Report

rs1801166