Name: rs1000055
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.

rs1000055

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr18:49054943 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.305044 (80742/264690, TOPMED)
A=0.409594 (90812/221712, ALFA)
A=0.404187 (82889/205076, GENOGRAPHIC) (+ 21 more)
A=0.316800 (44385/140104, GnomAD)
A=0.00166 (47/28258, 14KJPN)
A=0.00167 (28/16760, 8.3KJPN)
A=0.2047 (1311/6404, 1000G_30x)
A=0.2023 (1013/5008, 1000G)
A=0.3438 (1540/4480, Estonian)
A=0.4141 (1596/3854, ALSPAC)
A=0.4237 (1571/3708, TWINSUK)
A=0.0072 (21/2922, KOREAN)
A=0.2399 (500/2084, HGDP_Stanford)
A=0.0071 (13/1832, Korea1K)
A=0.2219 (383/1726, HapMap)
A=0.3984 (451/1132, Daghestan)
A=0.454 (453/998, GoNL)
A=0.254 (159/626, Chileans)
A=0.408 (245/600, NorthernSweden)
A=0.370 (80/216, Qatari)
G=0.395 (75/190, SGDP_PRJ)
G=0.42 (38/90, Ancient Sardinia)
A=0.45 (18/40, GENOME_DK)
G=0.25 (6/24, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: DYM : Intron 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	221712	G=0.590406	A=0.409594
European	Sub	190836	G=0.564831	A=0.435169
African	Sub	7748	G=0.8335	A=0.1665
African Others	Sub	276	G=0.866	A=0.134
African American	Sub	7472	G=0.8323	A=0.1677
Asian	Sub	792	G=0.984	A=0.016
East Asian	Sub	616	G=0.992	A=0.008
Other Asian	Sub	176	G=0.955	A=0.045
Latin American 1	Sub	980	G=0.655	A=0.345
Latin American 2	Sub	9040	G=0.7600	A=0.2400
South Asian	Sub	5056	G=0.7360	A=0.2640
Other	Sub	7260	G=0.6391	A=0.3609

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=0.694956	A=0.305044
Allele Frequency Aggregator	Total	Global	221712	G=0.590406	A=0.409594
Allele Frequency Aggregator	European	Sub	190836	G=0.564831	A=0.435169
Allele Frequency Aggregator	Latin American 2	Sub	9040	G=0.7600	A=0.2400
Allele Frequency Aggregator	African	Sub	7748	G=0.8335	A=0.1665
Allele Frequency Aggregator	Other	Sub	7260	G=0.6391	A=0.3609
Allele Frequency Aggregator	South Asian	Sub	5056	G=0.7360	A=0.2640
Allele Frequency Aggregator	Latin American 1	Sub	980	G=0.655	A=0.345
Allele Frequency Aggregator	Asian	Sub	792	G=0.984	A=0.016
Genographic Project	Global	Study-wide	205076	G=0.595813	A=0.404187
gnomAD - Genomes	Global	Study-wide	140104	G=0.683200	A=0.316800
gnomAD - Genomes	European	Sub	75842	G=0.59282	A=0.40718
gnomAD - Genomes	African	Sub	41996	G=0.83363	A=0.16637
gnomAD - Genomes	American	Sub	13656	G=0.69610	A=0.30390
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	G=0.5120	A=0.4880
gnomAD - Genomes	East Asian	Sub	3132	G=0.9930	A=0.0070
gnomAD - Genomes	Other	Sub	2154	G=0.6643	A=0.3357
14KJPN	JAPANESE	Study-wide	28258	G=0.99834	A=0.00166
8.3KJPN	JAPANESE	Study-wide	16760	G=0.99833	A=0.00167
1000Genomes_30x	Global	Study-wide	6404	G=0.7953	A=0.2047
1000Genomes_30x	African	Sub	1786	G=0.8914	A=0.1086
1000Genomes_30x	Europe	Sub	1266	G=0.5403	A=0.4597
1000Genomes_30x	South Asian	Sub	1202	G=0.8012	A=0.1988
1000Genomes_30x	East Asian	Sub	1170	G=0.9966	A=0.0034
1000Genomes_30x	American	Sub	980	G=0.702	A=0.298
1000Genomes	Global	Study-wide	5008	G=0.7977	A=0.2023
1000Genomes	African	Sub	1322	G=0.8828	A=0.1172
1000Genomes	East Asian	Sub	1008	G=0.9960	A=0.0040
1000Genomes	Europe	Sub	1006	G=0.5398	A=0.4602
1000Genomes	South Asian	Sub	978	G=0.803	A=0.197
1000Genomes	American	Sub	694	G=0.715	A=0.285
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.6562	A=0.3438
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.5859	A=0.4141
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.5763	A=0.4237
KOREAN population from KRGDB	KOREAN	Study-wide	2922	G=0.9928	A=0.0072
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	G=0.7601	A=0.2399
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	G=0.977	A=0.023
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	G=0.693	A=0.307
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	G=0.506	A=0.494
HGDP-CEPH-db Supplement 1	Europe	Sub	320	G=0.544	A=0.456
HGDP-CEPH-db Supplement 1	Africa	Sub	242	G=0.855	A=0.145
HGDP-CEPH-db Supplement 1	America	Sub	216	G=0.991	A=0.009
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	G=0.92	A=0.08
Korean Genome Project	KOREAN	Study-wide	1832	G=0.9929	A=0.0071
HapMap	Global	Study-wide	1726	G=0.7781	A=0.2219
HapMap	American	Sub	770	G=0.751	A=0.249
HapMap	African	Sub	692	G=0.861	A=0.139
HapMap	Europe	Sub	176	G=0.460	A=0.540
HapMap	Asian	Sub	88	G=1.00	A=0.00
Genome-wide autozygosity in Daghestan	Global	Study-wide	1132	G=0.6016	A=0.3984
Genome-wide autozygosity in Daghestan	Daghestan	Sub	626	G=0.570	A=0.430
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	G=0.590	A=0.410
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	G=0.787	A=0.213
Genome-wide autozygosity in Daghestan	Europe	Sub	108	G=0.491	A=0.509
Genome-wide autozygosity in Daghestan	South Asian	Sub	96	G=0.78	A=0.22
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	G=0.42	A=0.58
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.546	A=0.454
Chileans	Chilean	Study-wide	626	G=0.746	A=0.254
Northern Sweden	ACPOP	Study-wide	600	G=0.592	A=0.408
Qatari	Global	Study-wide	216	G=0.630	A=0.370
SGDP_PRJ	Global	Study-wide	190	G=0.395	A=0.605
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	90	G=0.42	A=0.58
The Danish reference pan genome	Danish	Study-wide	40	G=0.55	A=0.45
Siberian	Global	Study-wide	24	G=0.25	A=0.75

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 18	NC_000018.10:g.49054943G>A
GRCh37.p13 chr 18	NC_000018.9:g.46581313G>A
DYM RefSeqGene	NG_009239.2:g.410791C>T

Gene: DYM, dymeclin (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DYM transcript variant 2	NM_001353210.3:c.1858-107… NM_001353210.3:c.1858-10739C>T	N/A	Intron Variant
DYM transcript variant 3	NM_001353211.3:c.1858-107… NM_001353211.3:c.1858-10739C>T	N/A	Intron Variant
DYM transcript variant 4	NM_001353212.3:c.2023-107… NM_001353212.3:c.2023-10739C>T	N/A	Intron Variant
DYM transcript variant 5	NM_001353213.3:c.2023-107… NM_001353213.3:c.2023-10739C>T	N/A	Intron Variant
DYM transcript variant 6	NM_001353214.3:c.2026-107… NM_001353214.3:c.2026-10739C>T	N/A	Intron Variant
DYM transcript variant 7	NM_001353215.3:c.1843-107… NM_001353215.3:c.1843-10739C>T	N/A	Intron Variant
DYM transcript variant 8	NM_001353216.3:c.1678-107… NM_001353216.3:c.1678-10739C>T	N/A	Intron Variant
DYM transcript variant 9	NM_001374428.1:c.2026-107… NM_001374428.1:c.2026-10739C>T	N/A	Intron Variant
DYM transcript variant 10	NM_001374429.1:c.2020-107… NM_001374429.1:c.2020-10739C>T	N/A	Intron Variant
DYM transcript variant 11	NM_001374430.1:c.2121-107… NM_001374430.1:c.2121-10739C>T	N/A	Intron Variant
DYM transcript variant 12	NM_001374431.1:c.1912-107… NM_001374431.1:c.1912-10739C>T	N/A	Intron Variant
DYM transcript variant 13	NM_001374432.1:c.1900-107… NM_001374432.1:c.1900-10739C>T	N/A	Intron Variant
DYM transcript variant 14	NM_001374433.1:c.1956-107… NM_001374433.1:c.1956-10739C>T	N/A	Intron Variant
DYM transcript variant 15	NM_001374434.1:c.1747-107… NM_001374434.1:c.1747-10739C>T	N/A	Intron Variant
DYM transcript variant 16	NM_001374435.1:c.1744-107… NM_001374435.1:c.1744-10739C>T	N/A	Intron Variant
DYM transcript variant 17	NM_001374436.1:c.1735-107… NM_001374436.1:c.1735-10739C>T	N/A	Intron Variant
DYM transcript variant 18	NM_001374437.1:c.1678-107… NM_001374437.1:c.1678-10739C>T	N/A	Intron Variant
DYM transcript variant 19	NM_001374438.1:c.1675-107… NM_001374438.1:c.1675-10739C>T	N/A	Intron Variant
DYM transcript variant 20	NM_001374439.1:c.1672-107… NM_001374439.1:c.1672-10739C>T	N/A	Intron Variant
DYM transcript variant 21	NM_001374440.1:c.1633-107… NM_001374440.1:c.1633-10739C>T	N/A	Intron Variant
DYM transcript variant 22	NM_001374441.1:c.1456-107… NM_001374441.1:c.1456-10739C>T	N/A	Intron Variant
DYM transcript variant 23	NM_001374442.1:c.1291-107… NM_001374442.1:c.1291-10739C>T	N/A	Intron Variant
DYM transcript variant 24	NM_001374443.1:c.1288-107… NM_001374443.1:c.1288-10739C>T	N/A	Intron Variant
DYM transcript variant 25	NM_001374444.1:c.1108-107… NM_001374444.1:c.1108-10739C>T	N/A	Intron Variant
DYM transcript variant 1	NM_017653.6:c.1861-10739C… NM_017653.6:c.1861-10739C>T	N/A	Intron Variant
DYM transcript variant X1	XM_011526036.3:c.1979-107… XM_011526036.3:c.1979-10739C>T	N/A	Intron Variant
DYM transcript variant X2	XM_011526037.2:c.1976-107… XM_011526037.2:c.1976-10739C>T	N/A	Intron Variant
DYM transcript variant X3	XM_011526038.3:c.1976-107… XM_011526038.3:c.1976-10739C>T	N/A	Intron Variant
DYM transcript variant X6	XM_011526041.3:c.1796-107… XM_011526041.3:c.1796-10739C>T	N/A	Intron Variant
DYM transcript variant X4	XM_017025795.2:c.1973-107… XM_017025795.2:c.1973-10739C>T	N/A	Intron Variant
DYM transcript variant X8	XM_047437553.1:c.1855-107… XM_047437553.1:c.1855-10739C>T	N/A	Intron Variant
DYM transcript variant X9	XM_047437554.1:c.1953-107… XM_047437554.1:c.1953-10739C>T	N/A	Intron Variant
DYM transcript variant X10	XM_047437555.1:c.1953-107… XM_047437555.1:c.1953-10739C>T	N/A	Intron Variant
DYM transcript variant X11	XM_047437556.1:c.1675-107… XM_047437556.1:c.1675-10739C>T	N/A	Intron Variant
DYM transcript variant X13	XM_047437558.1:c.1773-107… XM_047437558.1:c.1773-10739C>T	N/A	Intron Variant
DYM transcript variant X14	XM_047437559.1:c.1767-107… XM_047437559.1:c.1767-10739C>T	N/A	Intron Variant
DYM transcript variant X15	XM_006722492.5:c.	N/A	Genic Downstream Transcript Variant
DYM transcript variant X5	XM_011526039.3:c.	N/A	Genic Downstream Transcript Variant
DYM transcript variant X7	XM_011526042.3:c.	N/A	Genic Downstream Transcript Variant
DYM transcript variant X12	XM_047437557.1:c.	N/A	Genic Downstream Transcript Variant
DYM transcript variant X16	XM_047437560.1:c.	N/A	Genic Downstream 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	G=	A
GRCh38.p14 chr 18	NC_000018.10:g.49054943=	NC_000018.10:g.49054943G>A
GRCh37.p13 chr 18	NC_000018.9:g.46581313=	NC_000018.9:g.46581313G>A
DYM RefSeqGene	NG_009239.2:g.410791=	NG_009239.2:g.410791C>T
DYM transcript variant 2	NM_001353210.3:c.1858-10739=	NM_001353210.3:c.1858-10739C>T
DYM transcript variant 3	NM_001353211.3:c.1858-10739=	NM_001353211.3:c.1858-10739C>T
DYM transcript variant 4	NM_001353212.3:c.2023-10739=	NM_001353212.3:c.2023-10739C>T
DYM transcript variant 5	NM_001353213.3:c.2023-10739=	NM_001353213.3:c.2023-10739C>T
DYM transcript variant 6	NM_001353214.3:c.2026-10739=	NM_001353214.3:c.2026-10739C>T
DYM transcript variant 7	NM_001353215.3:c.1843-10739=	NM_001353215.3:c.1843-10739C>T
DYM transcript variant 8	NM_001353216.3:c.1678-10739=	NM_001353216.3:c.1678-10739C>T
DYM transcript variant 9	NM_001374428.1:c.2026-10739=	NM_001374428.1:c.2026-10739C>T
DYM transcript variant 10	NM_001374429.1:c.2020-10739=	NM_001374429.1:c.2020-10739C>T
DYM transcript variant 11	NM_001374430.1:c.2121-10739=	NM_001374430.1:c.2121-10739C>T
DYM transcript variant 12	NM_001374431.1:c.1912-10739=	NM_001374431.1:c.1912-10739C>T
DYM transcript variant 13	NM_001374432.1:c.1900-10739=	NM_001374432.1:c.1900-10739C>T
DYM transcript variant 14	NM_001374433.1:c.1956-10739=	NM_001374433.1:c.1956-10739C>T
DYM transcript variant 15	NM_001374434.1:c.1747-10739=	NM_001374434.1:c.1747-10739C>T
DYM transcript variant 16	NM_001374435.1:c.1744-10739=	NM_001374435.1:c.1744-10739C>T
DYM transcript variant 17	NM_001374436.1:c.1735-10739=	NM_001374436.1:c.1735-10739C>T
DYM transcript variant 18	NM_001374437.1:c.1678-10739=	NM_001374437.1:c.1678-10739C>T
DYM transcript variant 19	NM_001374438.1:c.1675-10739=	NM_001374438.1:c.1675-10739C>T
DYM transcript variant 20	NM_001374439.1:c.1672-10739=	NM_001374439.1:c.1672-10739C>T
DYM transcript variant 21	NM_001374440.1:c.1633-10739=	NM_001374440.1:c.1633-10739C>T
DYM transcript variant 22	NM_001374441.1:c.1456-10739=	NM_001374441.1:c.1456-10739C>T
DYM transcript variant 23	NM_001374442.1:c.1291-10739=	NM_001374442.1:c.1291-10739C>T
DYM transcript variant 24	NM_001374443.1:c.1288-10739=	NM_001374443.1:c.1288-10739C>T
DYM transcript variant 25	NM_001374444.1:c.1108-10739=	NM_001374444.1:c.1108-10739C>T
DYM transcript	NM_017653.3:c.1861-10739=	NM_017653.3:c.1861-10739C>T
DYM transcript variant 1	NM_017653.6:c.1861-10739=	NM_017653.6:c.1861-10739C>T
DYM transcript variant X1	XM_005258288.1:c.2026-10739=	XM_005258288.1:c.2026-10739C>T
DYM transcript variant X2	XM_005258289.1:c.1843-10739=	XM_005258289.1:c.1843-10739C>T
DYM transcript variant X4	XM_005258291.1:c.1291-10739=	XM_005258291.1:c.1291-10739C>T
DYM transcript variant X1	XM_011526036.3:c.1979-10739=	XM_011526036.3:c.1979-10739C>T
DYM transcript variant X2	XM_011526037.2:c.1976-10739=	XM_011526037.2:c.1976-10739C>T
DYM transcript variant X3	XM_011526038.3:c.1976-10739=	XM_011526038.3:c.1976-10739C>T
DYM transcript variant X6	XM_011526041.3:c.1796-10739=	XM_011526041.3:c.1796-10739C>T
DYM transcript variant X4	XM_017025795.2:c.1973-10739=	XM_017025795.2:c.1973-10739C>T
DYM transcript variant X8	XM_047437553.1:c.1855-10739=	XM_047437553.1:c.1855-10739C>T
DYM transcript variant X9	XM_047437554.1:c.1953-10739=	XM_047437554.1:c.1953-10739C>T
DYM transcript variant X10	XM_047437555.1:c.1953-10739=	XM_047437555.1:c.1953-10739C>T
DYM transcript variant X11	XM_047437556.1:c.1675-10739=	XM_047437556.1:c.1675-10739C>T
DYM transcript variant X13	XM_047437558.1:c.1773-10739=	XM_047437558.1:c.1773-10739C>T
DYM transcript variant X14	XM_047437559.1:c.1767-10739=	XM_047437559.1:c.1767-10739C>T

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#.

125 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss1459657	Oct 05, 2000 (86)
2	CSHL-HAPMAP	ss16762032	Feb 27, 2004 (120)
3	SSAHASNP	ss21439307	Apr 05, 2004 (121)
4	PERLEGEN	ss24506720	Sep 20, 2004 (123)
5	ABI	ss44108869	Mar 15, 2006 (126)
6	AFFY	ss66269789	Dec 02, 2006 (127)
7	ILLUMINA	ss66539171	Dec 02, 2006 (127)
8	ILLUMINA	ss66863640	Dec 02, 2006 (127)
9	ILLUMINA	ss66932378	Dec 02, 2006 (127)
10	PERLEGEN	ss69214142	May 18, 2007 (127)
11	ILLUMINA	ss70355802	May 18, 2007 (127)
12	ILLUMINA	ss70458989	May 25, 2008 (130)
13	ILLUMINA	ss70979533	May 18, 2007 (127)
14	ILLUMINA	ss75746261	Dec 07, 2007 (129)
15	AFFY	ss76414673	Dec 07, 2007 (129)
16	HGSV	ss78966385	Dec 07, 2007 (129)
17	KRIBB_YJKIM	ss83650168	Dec 15, 2007 (130)
18	BCMHGSC_JDW	ss90787587	Mar 24, 2008 (129)
19	HUMANGENOME_JCVI	ss96340122	Feb 05, 2009 (130)
20	1000GENOMES	ss110509708	Jan 24, 2009 (130)
21	ILLUMINA-UK	ss117870628	Feb 14, 2009 (130)
22	ILLUMINA	ss121251332	Dec 01, 2009 (131)
23	ENSEMBL	ss137373888	Dec 01, 2009 (131)
24	ILLUMINA	ss152537521	Dec 01, 2009 (131)
25	ILLUMINA	ss159102843	Dec 01, 2009 (131)
26	ILLUMINA	ss159849825	Dec 01, 2009 (131)
27	COMPLETE_GENOMICS	ss168211787	Jul 04, 2010 (132)
28	ILLUMINA	ss169203545	Jul 04, 2010 (132)
29	ILLUMINA	ss169484683	Jul 04, 2010 (132)
30	COMPLETE_GENOMICS	ss171782466	Jul 04, 2010 (132)
31	AFFY	ss173512018	Jul 04, 2010 (132)
32	BCM-HGSC-SUB	ss208192256	Jul 04, 2010 (132)
33	1000GENOMES	ss227862784	Jul 14, 2010 (132)
34	1000GENOMES	ss237468014	Jul 15, 2010 (132)
35	PJP	ss292171031	May 09, 2011 (134)
36	ILLUMINA	ss479152997	May 04, 2012 (137)
37	ILLUMINA	ss479153810	May 04, 2012 (137)
38	ILLUMINA	ss479465967	Sep 08, 2015 (146)
39	ILLUMINA	ss484377161	May 04, 2012 (137)
40	ILLUMINA	ss536563810	Sep 08, 2015 (146)
41	TISHKOFF	ss565644630	Apr 25, 2013 (138)
42	SSMP	ss661476340	Apr 25, 2013 (138)
43	ILLUMINA	ss778343394	Aug 21, 2014 (142)
44	ILLUMINA	ss782634877	Aug 21, 2014 (142)
45	ILLUMINA	ss783604434	Aug 21, 2014 (142)
46	ILLUMINA	ss825325533	Aug 21, 2014 (144)
47	ILLUMINA	ss831884942	Apr 01, 2015 (144)
48	ILLUMINA	ss832615639	Aug 21, 2014 (142)
49	ILLUMINA	ss833206328	Aug 21, 2014 (142)
50	ILLUMINA	ss833798027	Aug 21, 2014 (142)
51	EVA-GONL	ss993735810	Aug 21, 2014 (142)
52	JMKIDD_LAB	ss1081505242	Aug 21, 2014 (142)
53	1000GENOMES	ss1361060354	Aug 21, 2014 (142)
54	HAMMER_LAB	ss1397745881	Sep 08, 2015 (146)
55	DDI	ss1428217644	Apr 01, 2015 (144)
56	EVA_GENOME_DK	ss1578405807	Apr 01, 2015 (144)
57	EVA_UK10K_ALSPAC	ss1636892279	Apr 01, 2015 (144)
58	EVA_UK10K_TWINSUK	ss1679886312	Apr 01, 2015 (144)
59	EVA_DECODE	ss1697794231	Apr 01, 2015 (144)
60	EVA_SVP	ss1713626589	Apr 01, 2015 (144)
61	ILLUMINA	ss1752258123	Sep 08, 2015 (146)
62	HAMMER_LAB	ss1809054044	Sep 08, 2015 (146)
63	WEILL_CORNELL_DGM	ss1937202486	Feb 12, 2016 (147)
64	GENOMED	ss1968525001	Jul 19, 2016 (147)
65	JJLAB	ss2029370850	Sep 14, 2016 (149)
66	ILLUMINA	ss2095080775	Dec 20, 2016 (150)
67	USC_VALOUEV	ss2157876200	Dec 20, 2016 (150)
68	HUMAN_LONGEVITY	ss2221648518	Dec 20, 2016 (150)
69	ILLUMINA	ss2633474018	Nov 08, 2017 (151)
70	ILLUMINA	ss2710868639	Nov 08, 2017 (151)
71	GNOMAD	ss2956790660	Nov 08, 2017 (151)
72	SWEGEN	ss3016540001	Nov 08, 2017 (151)
73	BIOINF_KMB_FNS_UNIBA	ss3028513729	Nov 08, 2017 (151)
74	CSHL	ss3352026188	Nov 08, 2017 (151)
75	ILLUMINA	ss3627810981	Oct 12, 2018 (152)
76	ILLUMINA	ss3631450592	Oct 12, 2018 (152)
77	ILLUMINA	ss3633162888	Oct 12, 2018 (152)
78	ILLUMINA	ss3633871684	Oct 12, 2018 (152)
79	ILLUMINA	ss3634706437	Oct 12, 2018 (152)
80	ILLUMINA	ss3635558955	Oct 12, 2018 (152)
81	ILLUMINA	ss3636395784	Oct 12, 2018 (152)
82	ILLUMINA	ss3637310568	Oct 12, 2018 (152)
83	ILLUMINA	ss3638196656	Oct 12, 2018 (152)
84	ILLUMINA	ss3639106426	Oct 12, 2018 (152)
85	ILLUMINA	ss3639561889	Oct 12, 2018 (152)
86	ILLUMINA	ss3640413745	Oct 12, 2018 (152)
87	ILLUMINA	ss3643172326	Oct 12, 2018 (152)
88	URBANLAB	ss3650791284	Oct 12, 2018 (152)
89	ILLUMINA	ss3652266210	Oct 12, 2018 (152)
90	EGCUT_WGS	ss3683382099	Jul 13, 2019 (153)
91	EVA_DECODE	ss3701674849	Jul 13, 2019 (153)
92	ACPOP	ss3742549128	Jul 13, 2019 (153)
93	ILLUMINA	ss3745006585	Jul 13, 2019 (153)
94	EVA	ss3755398824	Jul 13, 2019 (153)
95	ILLUMINA	ss3772504073	Jul 13, 2019 (153)
96	PACBIO	ss3788372000	Jul 13, 2019 (153)
97	PACBIO	ss3793302925	Jul 13, 2019 (153)
98	PACBIO	ss3798189258	Jul 13, 2019 (153)
99	KHV_HUMAN_GENOMES	ss3820659512	Jul 13, 2019 (153)
100	EVA	ss3835172455	Apr 27, 2020 (154)
101	EVA	ss3841203317	Apr 27, 2020 (154)
102	EVA	ss3846705425	Apr 27, 2020 (154)
103	HGDP	ss3847583701	Apr 27, 2020 (154)
104	SGDP_PRJ	ss3887035798	Apr 27, 2020 (154)
105	KRGDB	ss3936908065	Apr 27, 2020 (154)
106	KOGIC	ss3980169274	Apr 27, 2020 (154)
107	EVA	ss3985826546	Apr 27, 2021 (155)
108	EVA	ss4017798638	Apr 27, 2021 (155)
109	TOPMED	ss5057027796	Apr 27, 2021 (155)
110	TOMMO_GENOMICS	ss5225208952	Apr 27, 2021 (155)
111	1000G_HIGH_COVERAGE	ss5305323498	Oct 16, 2022 (156)
112	GENOGRAPHIC	ss5314575860	Oct 16, 2022 (156)
113	EVA	ss5315933745	Oct 16, 2022 (156)
114	EVA	ss5431480841	Oct 16, 2022 (156)
115	HUGCELL_USP	ss5498090936	Oct 16, 2022 (156)
116	1000G_HIGH_COVERAGE	ss5610182242	Oct 16, 2022 (156)
117	SANFORD_IMAGENETICS	ss5661311311	Oct 16, 2022 (156)
118	TOMMO_GENOMICS	ss5783011739	Oct 16, 2022 (156)
119	EVA	ss5799993745	Oct 16, 2022 (156)
120	YY_MCH	ss5817102700	Oct 16, 2022 (156)
121	EVA	ss5827554907	Oct 16, 2022 (156)
122	EVA	ss5852055281	Oct 16, 2022 (156)
123	EVA	ss5874118756	Oct 16, 2022 (156)
124	EVA	ss5952728001	Oct 16, 2022 (156)
125	EVA	ss5979527952	Oct 16, 2022 (156)
126	1000Genomes	NC_000018.9 - 46581313	Oct 12, 2018 (152)
127	1000Genomes_30x	NC_000018.10 - 49054943	Oct 16, 2022 (156)
128	The Avon Longitudinal Study of Parents and Children	NC_000018.9 - 46581313	Oct 12, 2018 (152)
129	Chileans	NC_000018.9 - 46581313	Apr 27, 2020 (154)
130	Genome-wide autozygosity in Daghestan	NC_000018.8 - 44835311	Apr 27, 2020 (154)
131	Genetic variation in the Estonian population	NC_000018.9 - 46581313	Oct 12, 2018 (152)
132	Genographic Project	NC_000018.10 - 49054943	Oct 16, 2022 (156)
133	The Danish reference pan genome	NC_000018.9 - 46581313	Apr 27, 2020 (154)
134	gnomAD - Genomes	NC_000018.10 - 49054943	Apr 27, 2021 (155)
135	Genome of the Netherlands Release 5	NC_000018.9 - 46581313	Apr 27, 2020 (154)
136	HGDP-CEPH-db Supplement 1	NC_000018.8 - 44835311	Apr 27, 2020 (154)
137	HapMap	NC_000018.10 - 49054943	Apr 27, 2020 (154)
138	KOREAN population from KRGDB	NC_000018.9 - 46581313	Apr 27, 2020 (154)
139	Korean Genome Project	NC_000018.10 - 49054943	Apr 27, 2020 (154)
140	Northern Sweden	NC_000018.9 - 46581313	Jul 13, 2019 (153)
141	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000018.9 - 46581313	Apr 27, 2021 (155)
142	Qatari	NC_000018.9 - 46581313	Apr 27, 2020 (154)
143	SGDP_PRJ	NC_000018.9 - 46581313	Apr 27, 2020 (154)
144	Siberian	NC_000018.9 - 46581313	Apr 27, 2020 (154)
145	8.3KJPN	NC_000018.9 - 46581313	Apr 27, 2021 (155)
146	14KJPN	NC_000018.10 - 49054943	Oct 16, 2022 (156)
147	TopMed	NC_000018.10 - 49054943	Apr 27, 2021 (155)
148	UK 10K study - Twins	NC_000018.9 - 46581313	Oct 12, 2018 (152)
149	ALFA	NC_000018.10 - 49054943	Apr 27, 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).

Associated ID	History Updated (Build)
rs17774958	Oct 08, 2004 (123)
rs34671658	Jul 01, 2015 (144)
rs59378394	May 25, 2008 (130)
rs386508648	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
215572, 261593, ss78966385, ss90787587, ss110509708, ss117870628, ss168211787, ss171782466, ss208192256, ss292171031, ss479152997, ss825325533, ss1397745881, ss1697794231, ss1713626589, ss3639106426, ss3639561889, ss3643172326, ss3847583701	NC_000018.8:44835310:G:A	NC_000018.10:49054942:G:A	(self)
74390648, 41217281, 195302, 29120347, 4597735, 18363313, 44085459, 15833993, 1052473, 19244408, 39052778, 10392554, 83178259, 41217281, ss227862784, ss237468014, ss479153810, ss479465967, ss484377161, ss536563810, ss565644630, ss661476340, ss778343394, ss782634877, ss783604434, ss831884942, ss832615639, ss833206328, ss833798027, ss993735810, ss1081505242, ss1361060354, ss1428217644, ss1578405807, ss1636892279, ss1679886312, ss1752258123, ss1809054044, ss1937202486, ss1968525001, ss2029370850, ss2095080775, ss2157876200, ss2633474018, ss2710868639, ss2956790660, ss3016540001, ss3352026188, ss3627810981, ss3631450592, ss3633162888, ss3633871684, ss3634706437, ss3635558955, ss3636395784, ss3637310568, ss3638196656, ss3640413745, ss3652266210, ss3683382099, ss3742549128, ss3745006585, ss3755398824, ss3772504073, ss3788372000, ss3793302925, ss3798189258, ss3835172455, ss3841203317, ss3887035798, ss3936908065, ss3985826546, ss4017798638, ss5225208952, ss5315933745, ss5431480841, ss5661311311, ss5799993745, ss5827554907, ss5952728001, ss5979527952	NC_000018.9:46581312:G:A	NC_000018.10:49054942:G:A	(self)
97708177, 103462, 524802343, 1603369, 36547275, 116848843, 272573459, 23449509, ss2221648518, ss3028513729, ss3650791284, ss3701674849, ss3820659512, ss3846705425, ss3980169274, ss5057027796, ss5305323498, ss5314575860, ss5498090936, ss5610182242, ss5783011739, ss5817102700, ss5852055281, ss5874118756	NC_000018.10:49054942:G:A	NC_000018.10:49054942:G:A	(self)
ss16762032, ss21439307	NT_010966.13:28070414:G:A	NC_000018.10:49054942:G:A	(self)
ss1459657, ss24506720, ss44108869, ss66269789, ss66539171, ss66863640, ss66932378, ss69214142, ss70355802, ss70458989, ss70979533, ss75746261, ss76414673, ss83650168, ss96340122, ss121251332, ss137373888, ss152537521, ss159102843, ss159849825, ss169203545, ss169484683, ss173512018	NT_010966.14:28070414:G:A	NC_000018.10:49054942:G:A	(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 rs1000055

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

rs1000055