Name: rs111751804
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.

rs111751804

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:1180123 (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: T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.013835 (3662/264690, TOPMED)
C=0.019366 (4631/239128, GnomAD_exome)
C=0.019098 (2676/140122, GnomAD) (+ 19 more)
C=0.025683 (3423/133278, ALFA)
C=0.02245 (2189/97498, ExAC)
C=0.00526 (414/78646, PAGE_STUDY)
C=0.00007 (2/28258, 14KJPN)
C=0.00006 (1/16760, 8.3KJPN)
C=0.01809 (235/12992, GO-ESP)
C=0.0109 (70/6404, 1000G_30x)
C=0.0106 (53/5008, 1000G)
C=0.0730 (327/4480, Estonian)
C=0.0226 (87/3854, ALSPAC)
C=0.0186 (69/3708, TWINSUK)
C=0.033 (20/600, NorthernSweden)
C=0.023 (6/264, FINRISK)
C=0.009 (2/216, Qatari)
C=0.05 (2/40, GENOME_DK)
T=0.5 (5/10, SGDP_PRJ)
C=0.5 (5/10, SGDP_PRJ)
T=0.5 (1/2, Siberian)
C=0.5 (1/2, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TTLL10 : Missense Variant
TTLL10-AS1 : 2KB Upstream Variant
Publications: 0 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	149696	T=0.974996	C=0.025004
European	Sub	124436	T=0.972942	C=0.027058
African	Sub	9006	T=0.9957	C=0.0043
African Others	Sub	308	T=1.000	C=0.000
African American	Sub	8698	T=0.9955	C=0.0045
Asian	Sub	236	T=1.000	C=0.000
East Asian	Sub	152	T=1.000	C=0.000
Other Asian	Sub	84	T=1.00	C=0.00
Latin American 1	Sub	514	T=0.994	C=0.006
Latin American 2	Sub	656	T=0.991	C=0.009
South Asian	Sub	104	T=0.990	C=0.010
Other	Sub	14744	T=0.97782	C=0.02218

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	T=0.986165	C=0.013835
gnomAD - Exomes	Global	Study-wide	239128	T=0.980634	C=0.019366
gnomAD - Exomes	European	Sub	126214	T=0.970059	C=0.029941
gnomAD - Exomes	Asian	Sub	48188	T=0.99278	C=0.00722
gnomAD - Exomes	American	Sub	34062	T=0.99513	C=0.00487
gnomAD - Exomes	African	Sub	15184	T=0.99737	C=0.00263
gnomAD - Exomes	Ashkenazi Jewish	Sub	9654	T=0.9793	C=0.0207
gnomAD - Exomes	Other	Sub	5826	T=0.9832	C=0.0168
gnomAD - Genomes	Global	Study-wide	140122	T=0.980902	C=0.019098
gnomAD - Genomes	European	Sub	75884	T=0.96978	C=0.03022
gnomAD - Genomes	African	Sub	41986	T=0.99636	C=0.00364
gnomAD - Genomes	American	Sub	13650	T=0.99026	C=0.00974
gnomAD - Genomes	Ashkenazi Jewish	Sub	3316	T=0.9822	C=0.0178
gnomAD - Genomes	East Asian	Sub	3134	T=1.0000	C=0.0000
gnomAD - Genomes	Other	Sub	2152	T=0.9823	C=0.0177
Allele Frequency Aggregator	Total	Global	133278	T=0.974317	C=0.025683
Allele Frequency Aggregator	European	Sub	114284	T=0.972910	C=0.027090
Allele Frequency Aggregator	Other	Sub	13308	T=0.97783	C=0.02217
Allele Frequency Aggregator	African	Sub	4176	T=0.9947	C=0.0053
Allele Frequency Aggregator	Latin American 2	Sub	656	T=0.991	C=0.009
Allele Frequency Aggregator	Latin American 1	Sub	514	T=0.994	C=0.006
Allele Frequency Aggregator	Asian	Sub	236	T=1.000	C=0.000
Allele Frequency Aggregator	South Asian	Sub	104	T=0.990	C=0.010
ExAC	Global	Study-wide	97498	T=0.97755	C=0.02245
ExAC	Europe	Sub	58806	T=0.96720	C=0.03280
ExAC	Asian	Sub	21130	T=0.99219	C=0.00781
ExAC	American	Sub	9170	T=0.9949	C=0.0051
ExAC	African	Sub	7722	T=0.9961	C=0.0039
ExAC	Other	Sub	670	T=0.973	C=0.027
The PAGE Study	Global	Study-wide	78646	T=0.99474	C=0.00526
The PAGE Study	AfricanAmerican	Sub	32482	T=0.99584	C=0.00416
The PAGE Study	Mexican	Sub	10808	T=0.99352	C=0.00648
The PAGE Study	Asian	Sub	8310	T=0.9989	C=0.0011
The PAGE Study	PuertoRican	Sub	7916	T=0.9937	C=0.0063
The PAGE Study	NativeHawaiian	Sub	4530	T=0.9958	C=0.0042
The PAGE Study	Cuban	Sub	4228	T=0.9901	C=0.0099
The PAGE Study	Dominican	Sub	3828	T=0.9953	C=0.0047
The PAGE Study	CentralAmerican	Sub	2448	T=0.9943	C=0.0057
The PAGE Study	SouthAmerican	Sub	1982	T=0.9934	C=0.0066
The PAGE Study	NativeAmerican	Sub	1260	T=0.9802	C=0.0198
The PAGE Study	SouthAsian	Sub	854	T=0.978	C=0.022
14KJPN	JAPANESE	Study-wide	28258	T=0.99993	C=0.00007
8.3KJPN	JAPANESE	Study-wide	16760	T=0.99994	C=0.00006
GO Exome Sequencing Project	Global	Study-wide	12992	T=0.98191	C=0.01809
GO Exome Sequencing Project	European American	Sub	8592	T=0.9747	C=0.0253
GO Exome Sequencing Project	African American	Sub	4400	T=0.9959	C=0.0041
1000Genomes_30x	Global	Study-wide	6404	T=0.9891	C=0.0109
1000Genomes_30x	African	Sub	1786	T=0.9966	C=0.0034
1000Genomes_30x	Europe	Sub	1266	T=0.9676	C=0.0324
1000Genomes_30x	South Asian	Sub	1202	T=0.9875	C=0.0125
1000Genomes_30x	East Asian	Sub	1170	T=1.0000	C=0.0000
1000Genomes_30x	American	Sub	980	T=0.992	C=0.008
1000Genomes	Global	Study-wide	5008	T=0.9894	C=0.0106
1000Genomes	African	Sub	1322	T=0.9962	C=0.0038
1000Genomes	East Asian	Sub	1008	T=1.0000	C=0.0000
1000Genomes	Europe	Sub	1006	T=0.9692	C=0.0308
1000Genomes	South Asian	Sub	978	T=0.988	C=0.012
1000Genomes	American	Sub	694	T=0.993	C=0.007
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.9270	C=0.0730
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.9774	C=0.0226
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.9814	C=0.0186
Northern Sweden	ACPOP	Study-wide	600	T=0.967	C=0.033
FINRISK	Finnish from FINRISK project	Study-wide	264	T=0.977	C=0.023
Qatari	Global	Study-wide	216	T=0.991	C=0.009
The Danish reference pan genome	Danish	Study-wide	40	T=0.95	C=0.05
SGDP_PRJ	Global	Study-wide	10	T=0.5	C=0.5
Siberian	Global	Study-wide	2	T=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 1	NC_000001.11:g.1180123T>C
GRCh37.p13 chr 1	NC_000001.10:g.1115503T>C

Gene: TTLL10, tubulin tyrosine ligase like 10 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TTLL10 transcript variant 2	NM_153254.3:c.70T>C	C [TGT] > R [CGT]	Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 2	NP_694986.2:p.Cys24Arg	C (Cys) > R (Arg)	Missense Variant
TTLL10 transcript variant 1	NM_001130045.2:c.289T>C	C [TGT] > R [CGT]	Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 1	NP_001123517.1:p.Cys97Arg	C (Cys) > R (Arg)	Missense Variant
TTLL10 transcript variant 3	NM_001371649.1:c.289T>C	C [TGT] > R [CGT]	Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 1	NP_001358578.1:p.Cys97Arg	C (Cys) > R (Arg)	Missense Variant
TTLL10 transcript variant X1	XM_047416841.1:c.667T>C	C [TGT] > R [CGT]	Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X1	XP_047272797.1:p.Cys223Arg	C (Cys) > R (Arg)	Missense Variant
TTLL10 transcript variant X2	XM_017000906.2:c.586T>C	C [TGT] > R [CGT]	Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X2	XP_016856395.2:p.Cys196Arg	C (Cys) > R (Arg)	Missense Variant
TTLL10 transcript variant X3	XM_047416842.1:c.577T>C	C [TGT] > R [CGT]	Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X3	XP_047272798.1:p.Cys193Arg	C (Cys) > R (Arg)	Missense Variant
TTLL10 transcript variant X4	XM_047416843.1:c.667T>C	C [TGT] > R [CGT]	Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X1	XP_047272799.1:p.Cys223Arg	C (Cys) > R (Arg)	Missense Variant
TTLL10 transcript variant X5	XM_017000907.2:c.667T>C	C [TGT] > R [CGT]	Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X4	XP_016856396.2:p.Cys223Arg	C (Cys) > R (Arg)	Missense Variant
TTLL10 transcript variant X6	XM_017000908.2:c.667T>C	C [TGT] > R [CGT]	Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X5	XP_016856397.2:p.Cys223Arg	C (Cys) > R (Arg)	Missense Variant
TTLL10 transcript variant X7	XM_017000909.2:c.667T>C	C [TGT] > R [CGT]	Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X6	XP_016856398.2:p.Cys223Arg	C (Cys) > R (Arg)	Missense Variant
TTLL10 transcript variant X8	XM_017000910.3:c.667T>C	C [TGT] > R [CGT]	Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X7	XP_016856399.2:p.Cys223Arg	C (Cys) > R (Arg)	Missense Variant
TTLL10 transcript variant X9	XM_047416870.1:c.289T>C	C [TGT] > R [CGT]	Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X8	XP_047272826.1:p.Cys97Arg	C (Cys) > R (Arg)	Missense Variant
TTLL10 transcript variant X10	XM_017000912.2:c.289T>C	C [TGT] > R [CGT]	Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X8	XP_016856401.1:p.Cys97Arg	C (Cys) > R (Arg)	Missense Variant
TTLL10 transcript variant X11	XM_047416882.1:c.667T>C	C [TGT] > R [CGT]	Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X9	XP_047272838.1:p.Cys223Arg	C (Cys) > R (Arg)	Missense Variant
TTLL10 transcript variant X12	XM_005244738.2:c.70T>C	C [TGT] > R [CGT]	Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X10	XP_005244795.1:p.Cys24Arg	C (Cys) > R (Arg)	Missense Variant

Gene: TTLL10-AS1, TTLL10 antisense RNA 1 (minus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
TTLL10-AS1 transcript	NR_173246.1:n.	N/A	Upstream Transcript Variant

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.

Not Reported in ClinVar

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	T=	C
GRCh38.p14 chr 1	NC_000001.11:g.1180123=	NC_000001.11:g.1180123T>C
GRCh37.p13 chr 1	NC_000001.10:g.1115503=	NC_000001.10:g.1115503T>C
TTLL10 transcript variant X8	XM_017000910.3:c.667=	XM_017000910.3:c.667T>C
TTLL10 transcript variant X5	XM_017000910.2:c.289=	XM_017000910.2:c.289T>C
TTLL10 transcript variant X5	XM_017000910.1:c.289=	XM_017000910.1:c.289T>C
TTLL10 transcript variant 2	NM_153254.3:c.70=	NM_153254.3:c.70T>C
TTLL10 transcript variant 2	NM_153254.2:c.70=	NM_153254.2:c.70T>C
TTLL10 transcript variant X2	XM_017000906.2:c.586=	XM_017000906.2:c.586T>C
TTLL10 transcript variant X1	XM_017000906.1:c.208=	XM_017000906.1:c.208T>C
TTLL10 transcript variant X7	XM_017000909.2:c.667=	XM_017000909.2:c.667T>C
TTLL10 transcript variant X4	XM_017000909.1:c.289=	XM_017000909.1:c.289T>C
TTLL10 transcript variant X10	XM_017000912.2:c.289=	XM_017000912.2:c.289T>C
TTLL10 transcript variant X8	XM_017000912.1:c.289=	XM_017000912.1:c.289T>C
TTLL10 transcript variant 1	NM_001130045.2:c.289=	NM_001130045.2:c.289T>C
TTLL10 transcript variant 1	NM_001130045.1:c.289=	NM_001130045.1:c.289T>C
TTLL10 transcript variant X5	XM_017000907.2:c.667=	XM_017000907.2:c.667T>C
TTLL10 transcript variant X2	XM_017000907.1:c.289=	XM_017000907.1:c.289T>C
TTLL10 transcript variant X6	XM_017000908.2:c.667=	XM_017000908.2:c.667T>C
TTLL10 transcript variant X3	XM_017000908.1:c.289=	XM_017000908.1:c.289T>C
TTLL10 transcript variant X12	XM_005244738.2:c.70=	XM_005244738.2:c.70T>C
TTLL10 transcript variant X10	XM_005244738.1:c.70=	XM_005244738.1:c.70T>C
TTLL10 transcript variant X1	XM_047416841.1:c.667=	XM_047416841.1:c.667T>C
TTLL10 transcript variant X4	XM_047416843.1:c.667=	XM_047416843.1:c.667T>C
TTLL10 transcript variant X3	XM_047416842.1:c.577=	XM_047416842.1:c.577T>C
TTLL10 transcript variant 3	NM_001371649.1:c.289=	NM_001371649.1:c.289T>C
TTLL10 transcript variant X9	XM_047416870.1:c.289=	XM_047416870.1:c.289T>C
TTLL10 transcript variant X11	XM_047416882.1:c.667=	XM_047416882.1:c.667T>C
inactive polyglycylase TTLL10 isoform X7	XP_016856399.2:p.Cys223=	XP_016856399.2:p.Cys223Arg
inactive polyglycylase TTLL10 isoform 2	NP_694986.2:p.Cys24=	NP_694986.2:p.Cys24Arg
inactive polyglycylase TTLL10 isoform X2	XP_016856395.2:p.Cys196=	XP_016856395.2:p.Cys196Arg
inactive polyglycylase TTLL10 isoform X6	XP_016856398.2:p.Cys223=	XP_016856398.2:p.Cys223Arg
inactive polyglycylase TTLL10 isoform X8	XP_016856401.1:p.Cys97=	XP_016856401.1:p.Cys97Arg
inactive polyglycylase TTLL10 isoform 1	NP_001123517.1:p.Cys97=	NP_001123517.1:p.Cys97Arg
inactive polyglycylase TTLL10 isoform X4	XP_016856396.2:p.Cys223=	XP_016856396.2:p.Cys223Arg
inactive polyglycylase TTLL10 isoform X5	XP_016856397.2:p.Cys223=	XP_016856397.2:p.Cys223Arg
inactive polyglycylase TTLL10 isoform X10	XP_005244795.1:p.Cys24=	XP_005244795.1:p.Cys24Arg
inactive polyglycylase TTLL10 isoform X1	XP_047272797.1:p.Cys223=	XP_047272797.1:p.Cys223Arg
inactive polyglycylase TTLL10 isoform X1	XP_047272799.1:p.Cys223=	XP_047272799.1:p.Cys223Arg
inactive polyglycylase TTLL10 isoform X3	XP_047272798.1:p.Cys193=	XP_047272798.1:p.Cys193Arg
inactive polyglycylase TTLL10 isoform 1	NP_001358578.1:p.Cys97=	NP_001358578.1:p.Cys97Arg
inactive polyglycylase TTLL10 isoform X8	XP_047272826.1:p.Cys97=	XP_047272826.1:p.Cys97Arg
inactive polyglycylase TTLL10 isoform X9	XP_047272838.1:p.Cys223=	XP_047272838.1:p.Cys223Arg

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#.

74 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	COMPLETE_GENOMICS	ss163708553	Jul 04, 2010 (132)
2	1000GENOMES	ss217314356	Jul 14, 2010 (132)
3	1000GENOMES	ss217410436	Jul 14, 2010 (132)
4	1000GENOMES	ss230396629	Jul 14, 2010 (132)
5	NHLBI-ESP	ss341924370	May 09, 2011 (134)
6	1000GENOMES	ss489714583	May 04, 2012 (137)
7	EXOME_CHIP	ss491284053	May 04, 2012 (137)
8	CLINSEQ_SNP	ss491581868	May 04, 2012 (137)
9	ILLUMINA	ss535698261	Sep 08, 2015 (146)
10	ILLUMINA	ss780756265	Aug 21, 2014 (142)
11	ILLUMINA	ss783434679	Aug 21, 2014 (142)
12	EVA-GONL	ss974772644	Aug 21, 2014 (142)
13	1000GENOMES	ss1289352907	Aug 21, 2014 (142)
14	EVA_GENOME_DK	ss1573852234	Apr 01, 2015 (144)
15	EVA_FINRISK	ss1584003644	Apr 01, 2015 (144)
16	EVA_DECODE	ss1584132568	Apr 01, 2015 (144)
17	EVA_UK10K_ALSPAC	ss1599383771	Apr 01, 2015 (144)
18	EVA_UK10K_TWINSUK	ss1642377804	Apr 01, 2015 (144)
19	EVA_EXAC	ss1685225656	Apr 01, 2015 (144)
20	ILLUMINA	ss1751863268	Sep 08, 2015 (146)
21	ILLUMINA	ss1917720985	Feb 12, 2016 (147)
22	WEILL_CORNELL_DGM	ss1917964719	Feb 12, 2016 (147)
23	ILLUMINA	ss1945981820	Feb 12, 2016 (147)
24	ILLUMINA	ss1958230892	Feb 12, 2016 (147)
25	JJLAB	ss2019500187	Sep 14, 2016 (149)
26	USC_VALOUEV	ss2147487056	Dec 20, 2016 (150)
27	HUMAN_LONGEVITY	ss2159391487	Dec 20, 2016 (150)
28	GNOMAD	ss2730999788	Nov 08, 2017 (151)
29	GNOMAD	ss2746174188	Nov 08, 2017 (151)
30	GNOMAD	ss2750679124	Nov 08, 2017 (151)
31	AFFY	ss2984841267	Nov 08, 2017 (151)
32	SWEGEN	ss2986155451	Nov 08, 2017 (151)
33	ILLUMINA	ss3021043846	Nov 08, 2017 (151)
34	ILLUMINA	ss3626007195	Oct 11, 2018 (152)
35	ILLUMINA	ss3626007196	Oct 11, 2018 (152)
36	ILLUMINA	ss3634302090	Oct 11, 2018 (152)
37	ILLUMINA	ss3640009456	Oct 11, 2018 (152)
38	ILLUMINA	ss3644477684	Oct 11, 2018 (152)
39	ILLUMINA	ss3651365899	Oct 11, 2018 (152)
40	ILLUMINA	ss3653615033	Oct 11, 2018 (152)
41	EGCUT_WGS	ss3654266494	Jul 12, 2019 (153)
42	EVA_DECODE	ss3685999324	Jul 12, 2019 (153)
43	ILLUMINA	ss3724988515	Jul 12, 2019 (153)
44	ACPOP	ss3726719296	Jul 12, 2019 (153)
45	ILLUMINA	ss3744337413	Jul 12, 2019 (153)
46	ILLUMINA	ss3744603021	Jul 12, 2019 (153)
47	EVA	ss3745725067	Jul 12, 2019 (153)
48	PAGE_CC	ss3770778879	Jul 12, 2019 (153)
49	ILLUMINA	ss3772104779	Jul 12, 2019 (153)
50	KHV_HUMAN_GENOMES	ss3798747717	Jul 12, 2019 (153)
51	EVA	ss3823543020	Apr 25, 2020 (154)
52	EVA	ss3825549311	Apr 25, 2020 (154)
53	SGDP_PRJ	ss3848005816	Apr 25, 2020 (154)
54	EVA	ss3986091282	Apr 25, 2021 (155)
55	TOPMED	ss4436539226	Apr 25, 2021 (155)
56	TOMMO_GENOMICS	ss5142070036	Apr 25, 2021 (155)
57	EVA	ss5236862459	Apr 25, 2021 (155)
58	EVA	ss5237258295	Apr 25, 2021 (155)
59	1000G_HIGH_COVERAGE	ss5240876062	Oct 12, 2022 (156)
60	EVA	ss5314586080	Oct 12, 2022 (156)
61	EVA	ss5316203711	Oct 12, 2022 (156)
62	HUGCELL_USP	ss5442122342	Oct 12, 2022 (156)
63	1000G_HIGH_COVERAGE	ss5512505620	Oct 12, 2022 (156)
64	SANFORD_IMAGENETICS	ss5624193902	Oct 12, 2022 (156)
65	SANFORD_IMAGENETICS	ss5624756805	Oct 12, 2022 (156)
66	TOMMO_GENOMICS	ss5666215657	Oct 12, 2022 (156)
67	EVA	ss5831423953	Oct 12, 2022 (156)
68	EVA	ss5847150786	Oct 12, 2022 (156)
69	EVA	ss5847521491	Oct 12, 2022 (156)
70	EVA	ss5848243491	Oct 12, 2022 (156)
71	EVA	ss5906717463	Oct 12, 2022 (156)
72	EVA	ss5936588869	Oct 12, 2022 (156)
73	EVA	ss5979259904	Oct 12, 2022 (156)
74	EVA	ss5979926521	Oct 12, 2022 (156)
75	1000Genomes	NC_000001.10 - 1115503	Oct 11, 2018 (152)
76	1000Genomes_30x	NC_000001.11 - 1180123	Oct 12, 2022 (156)
77	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 1115503	Oct 11, 2018 (152)
78	Genetic variation in the Estonian population	NC_000001.10 - 1115503	Oct 11, 2018 (152)
79	ExAC	NC_000001.10 - 1115503	Oct 11, 2018 (152)
80	FINRISK	NC_000001.10 - 1115503	Apr 25, 2020 (154)
81	The Danish reference pan genome	NC_000001.10 - 1115503	Apr 25, 2020 (154)
82	gnomAD - Genomes	NC_000001.11 - 1180123	Apr 25, 2021 (155)
83	gnomAD - Exomes	NC_000001.10 - 1115503	Jul 12, 2019 (153)
84	GO Exome Sequencing Project	NC_000001.10 - 1115503	Oct 11, 2018 (152)
85	Northern Sweden	NC_000001.10 - 1115503	Jul 12, 2019 (153)
86	The PAGE Study	NC_000001.11 - 1180123	Jul 12, 2019 (153)
87	Qatari	NC_000001.10 - 1115503	Apr 25, 2020 (154)
88	SGDP_PRJ	NC_000001.10 - 1115503	Apr 25, 2020 (154)
89	Siberian	NC_000001.10 - 1115503	Apr 25, 2020 (154)
90	8.3KJPN	NC_000001.10 - 1115503	Apr 25, 2021 (155)
91	14KJPN	NC_000001.11 - 1180123	Oct 12, 2022 (156)
92	TopMed	NC_000001.11 - 1180123	Apr 25, 2021 (155)
93	UK 10K study - Twins	NC_000001.10 - 1115503	Oct 11, 2018 (152)
94	ALFA	NC_000001.11 - 1180123	Apr 25, 2021 (155)

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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss163708553, ss217314356, ss217410436, ss491581868, ss1584132568	NC_000001.9:1105365:T:C	NC_000001.11:1180122:T:C	(self)
18091, 6213, 4742, 4399306, 105, 1359468, 14612, 1757, 4161, 6649, 22796, 3410, 39343, 6213, ss230396629, ss341924370, ss489714583, ss491284053, ss535698261, ss780756265, ss783434679, ss974772644, ss1289352907, ss1573852234, ss1584003644, ss1599383771, ss1642377804, ss1685225656, ss1751863268, ss1917720985, ss1917964719, ss1945981820, ss1958230892, ss2019500187, ss2147487056, ss2730999788, ss2746174188, ss2750679124, ss2984841267, ss2986155451, ss3021043846, ss3626007195, ss3626007196, ss3634302090, ss3640009456, ss3644477684, ss3651365899, ss3653615033, ss3654266494, ss3726719296, ss3744337413, ss3744603021, ss3745725067, ss3772104779, ss3823543020, ss3825549311, ss3848005816, ss3986091282, ss5142070036, ss5237258295, ss5314586080, ss5316203711, ss5624193902, ss5624756805, ss5831423953, ss5847150786, ss5847521491, ss5848243491, ss5936588869, ss5979259904, ss5979926521	NC_000001.10:1115502:T:C	NC_000001.11:1180122:T:C	(self)
31555, 158732, 348, 52761, 145561, 14266885805, ss2159391487, ss3685999324, ss3724988515, ss3770778879, ss3798747717, ss4436539226, ss5236862459, ss5240876062, ss5442122342, ss5512505620, ss5666215657, ss5906717463	NC_000001.11:1180122:T:C	NC_000001.11:1180122:T:C	(self)

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

No publications for rs111751804

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

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs111751804