Name: rs111491620
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.

rs111491620

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:72385005 (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: C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.076108 (20145/264690, TOPMED)
T=0.074567 (10455/140210, GnomAD)
T=0.07020 (1326/18890, ALFA) (+ 10 more)
T=0.0721 (462/6404, 1000G_30x)
T=0.0693 (347/5008, 1000G)
T=0.0540 (242/4480, Estonian)
T=0.0519 (200/3854, ALSPAC)
T=0.0483 (179/3708, TWINSUK)
T=0.051 (51/998, GoNL)
T=0.045 (27/600, NorthernSweden)
T=0.093 (20/216, Qatari)
C=0.47 (35/74, SGDP_PRJ)
T=0.07 (3/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RGS6 : Intron Variant
LOC105370559 : 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	18890	C=0.92980	T=0.07020
European	Sub	14286	C=0.94477	T=0.05523
African	Sub	2946	C=0.8517	T=0.1483
African Others	Sub	114	C=0.860	T=0.140
African American	Sub	2832	C=0.8513	T=0.1487
Asian	Sub	112	C=1.000	T=0.000
East Asian	Sub	86	C=1.00	T=0.00
Other Asian	Sub	26	C=1.00	T=0.00
Latin American 1	Sub	146	C=0.904	T=0.096
Latin American 2	Sub	610	C=0.956	T=0.044
South Asian	Sub	98	C=0.96	T=0.04
Other	Sub	692	C=0.921	T=0.079

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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	C=0.923892	T=0.076108
gnomAD - Genomes	Global	Study-wide	140210	C=0.925433	T=0.074567
gnomAD - Genomes	European	Sub	75946	C=0.95091	T=0.04909
gnomAD - Genomes	African	Sub	42006	C=0.86542	T=0.13458
gnomAD - Genomes	American	Sub	13654	C=0.95811	T=0.04189
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.8901	T=0.1099
gnomAD - Genomes	East Asian	Sub	3134	C=1.0000	T=0.0000
gnomAD - Genomes	Other	Sub	2148	C=0.9362	T=0.0638
Allele Frequency Aggregator	Total	Global	18890	C=0.92980	T=0.07020
Allele Frequency Aggregator	European	Sub	14286	C=0.94477	T=0.05523
Allele Frequency Aggregator	African	Sub	2946	C=0.8517	T=0.1483
Allele Frequency Aggregator	Other	Sub	692	C=0.921	T=0.079
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.956	T=0.044
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.904	T=0.096
Allele Frequency Aggregator	Asian	Sub	112	C=1.000	T=0.000
Allele Frequency Aggregator	South Asian	Sub	98	C=0.96	T=0.04
1000Genomes_30x	Global	Study-wide	6404	C=0.9279	T=0.0721
1000Genomes_30x	African	Sub	1786	C=0.8359	T=0.1641
1000Genomes_30x	Europe	Sub	1266	C=0.9400	T=0.0600
1000Genomes_30x	South Asian	Sub	1202	C=0.9642	T=0.0358
1000Genomes_30x	East Asian	Sub	1170	C=1.0000	T=0.0000
1000Genomes_30x	American	Sub	980	C=0.949	T=0.051
1000Genomes	Global	Study-wide	5008	C=0.9307	T=0.0693
1000Genomes	African	Sub	1322	C=0.8328	T=0.1672
1000Genomes	East Asian	Sub	1008	C=1.0000	T=0.0000
1000Genomes	Europe	Sub	1006	C=0.9423	T=0.0577
1000Genomes	South Asian	Sub	978	C=0.964	T=0.036
1000Genomes	American	Sub	694	C=0.952	T=0.048
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9460	T=0.0540
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9481	T=0.0519
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9517	T=0.0483
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.949	T=0.051
Northern Sweden	ACPOP	Study-wide	600	C=0.955	T=0.045
Qatari	Global	Study-wide	216	C=0.907	T=0.093
SGDP_PRJ	Global	Study-wide	74	C=0.47	T=0.53
The Danish reference pan genome	Danish	Study-wide	40	C=0.93	T=0.07

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 14	NC_000014.9:g.72385005C>T
GRCh37.p13 chr 14	NC_000014.8:g.72851713C>T
RGS6 RefSeqGene	NG_029236.1:g.457897C>T

Gene: RGS6, regulator of G protein signaling 6 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RGS6 transcript variant 1	NM_001204416.3:c.184+3281… NM_001204416.3:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 3	NM_001204417.3:c.184+3281… NM_001204417.3:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 4	NM_001204418.3:c.184+3281… NM_001204418.3:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 5	NM_001204419.3:c.184+3281… NM_001204419.3:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 6	NM_001204420.3:c.184+3281… NM_001204420.3:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 7	NM_001204421.3:c.184+3281… NM_001204421.3:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 8	NM_001204422.3:c.184+3281… NM_001204422.3:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 9	NM_001204423.2:c.79+32811… NM_001204423.2:c.79+32811C>T	N/A	Intron Variant
RGS6 transcript variant 10	NM_001204424.2:c.184+3281… NM_001204424.2:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 12	NM_001370270.1:c.184+3281… NM_001370270.1:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 13	NM_001370271.1:c.184+3281… NM_001370271.1:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 14	NM_001370272.1:c.184+3281… NM_001370272.1:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 15	NM_001370273.1:c.184+3281… NM_001370273.1:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 16	NM_001370274.1:c.184+3281… NM_001370274.1:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 17	NM_001370275.1:c.184+3281… NM_001370275.1:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 18	NM_001370276.1:c.184+3281… NM_001370276.1:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 19	NM_001370277.1:c.184+3281… NM_001370277.1:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 20	NM_001370278.1:c.184+3281… NM_001370278.1:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 21	NM_001370279.1:c.184+3281… NM_001370279.1:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 22	NM_001370280.1:c.184+3281… NM_001370280.1:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 23	NM_001370281.1:c.184+3281… NM_001370281.1:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 24	NM_001370282.1:c.184+3281… NM_001370282.1:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 25	NM_001370283.1:c.184+3281… NM_001370283.1:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 26	NM_001370284.1:c.184+3281… NM_001370284.1:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 27	NM_001370286.1:c.184+3281… NM_001370286.1:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 28	NM_001370287.1:c.184+3281… NM_001370287.1:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 29	NM_001370288.1:c.184+3281… NM_001370288.1:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 30	NM_001370289.1:c.184+3281… NM_001370289.1:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 31	NM_001370290.1:c.184+3281… NM_001370290.1:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 32	NM_001370291.1:c.184+3281… NM_001370291.1:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 33	NM_001370292.1:c.184+3281… NM_001370292.1:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 34	NM_001370293.1:c.184+3281… NM_001370293.1:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 35	NM_001370294.1:c.184+3281… NM_001370294.1:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 2	NM_004296.7:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant 11	NR_135235.2:n.	N/A	Intron Variant
RGS6 transcript variant X4	XM_017021820.3:c.184+3281… XM_017021820.3:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant X9	XM_017021822.3:c.184+3281… XM_017021822.3:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant X11	XM_017021825.3:c.184+3281… XM_017021825.3:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant X12	XM_017021826.3:c.184+3281… XM_017021826.3:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant X13	XM_017021827.3:c.184+3281… XM_017021827.3:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant X15	XM_017021828.3:c.184+3281… XM_017021828.3:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant X16	XM_017021830.3:c.184+3281… XM_017021830.3:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant X17	XM_017021831.3:c.184+3281… XM_017021831.3:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant X18	XM_017021832.3:c.184+3281… XM_017021832.3:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant X21	XM_017021833.3:c.184+3281… XM_017021833.3:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant X1	XM_024449759.2:c.184+3281… XM_024449759.2:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant X3	XM_024449760.2:c.184+3281… XM_024449760.2:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant X2	XM_024449761.2:c.184+3281… XM_024449761.2:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant X19	XM_024449776.2:c.184+3281… XM_024449776.2:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant X10	XM_047431987.1:c.184+3281… XM_047431987.1:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant X20	XM_047431990.1:c.184+3281… XM_047431990.1:c.184+32811C>T	N/A	Intron Variant
RGS6 transcript variant X8	XM_011537397.2:c.	N/A	Genic Upstream Transcript Variant
RGS6 transcript variant X6	XM_024449763.2:c.	N/A	Genic Upstream Transcript Variant
RGS6 transcript variant X7	XM_024449764.2:c.	N/A	Genic Upstream Transcript Variant
RGS6 transcript variant X5	XM_047431985.1:c.	N/A	Genic Upstream Transcript Variant
RGS6 transcript variant X14	XM_047431988.1:c.	N/A	Genic Upstream Transcript Variant

Gene: LOC105370559, uncharacterized LOC105370559 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105370559 transcript variant X1	XR_944018.3:n.	N/A	Intron Variant
LOC105370559 transcript variant X2	XR_944019.3:n.	N/A	Intron 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	C=	T
GRCh38.p14 chr 14	NC_000014.9:g.72385005=	NC_000014.9:g.72385005C>T
GRCh37.p13 chr 14	NC_000014.8:g.72851713=	NC_000014.8:g.72851713C>T
RGS6 RefSeqGene	NG_029236.1:g.457897=	NG_029236.1:g.457897C>T
RGS6 transcript variant 1	NM_001204416.1:c.184+32811=	NM_001204416.1:c.184+32811C>T
RGS6 transcript variant 1	NM_001204416.3:c.184+32811=	NM_001204416.3:c.184+32811C>T
RGS6 transcript variant 3	NM_001204417.1:c.184+32811=	NM_001204417.1:c.184+32811C>T
RGS6 transcript variant 3	NM_001204417.3:c.184+32811=	NM_001204417.3:c.184+32811C>T
RGS6 transcript variant 4	NM_001204418.1:c.184+32811=	NM_001204418.1:c.184+32811C>T
RGS6 transcript variant 4	NM_001204418.3:c.184+32811=	NM_001204418.3:c.184+32811C>T
RGS6 transcript variant 5	NM_001204419.1:c.184+32811=	NM_001204419.1:c.184+32811C>T
RGS6 transcript variant 5	NM_001204419.3:c.184+32811=	NM_001204419.3:c.184+32811C>T
RGS6 transcript variant 6	NM_001204420.1:c.184+32811=	NM_001204420.1:c.184+32811C>T
RGS6 transcript variant 6	NM_001204420.3:c.184+32811=	NM_001204420.3:c.184+32811C>T
RGS6 transcript variant 7	NM_001204421.1:c.184+32811=	NM_001204421.1:c.184+32811C>T
RGS6 transcript variant 7	NM_001204421.3:c.184+32811=	NM_001204421.3:c.184+32811C>T
RGS6 transcript variant 8	NM_001204422.1:c.184+32811=	NM_001204422.1:c.184+32811C>T
RGS6 transcript variant 8	NM_001204422.3:c.184+32811=	NM_001204422.3:c.184+32811C>T
RGS6 transcript variant 9	NM_001204423.1:c.79+32811=	NM_001204423.1:c.79+32811C>T
RGS6 transcript variant 9	NM_001204423.2:c.79+32811=	NM_001204423.2:c.79+32811C>T
RGS6 transcript variant 10	NM_001204424.1:c.184+32811=	NM_001204424.1:c.184+32811C>T
RGS6 transcript variant 10	NM_001204424.2:c.184+32811=	NM_001204424.2:c.184+32811C>T
RGS6 transcript variant 12	NM_001370270.1:c.184+32811=	NM_001370270.1:c.184+32811C>T
RGS6 transcript variant 13	NM_001370271.1:c.184+32811=	NM_001370271.1:c.184+32811C>T
RGS6 transcript variant 14	NM_001370272.1:c.184+32811=	NM_001370272.1:c.184+32811C>T
RGS6 transcript variant 15	NM_001370273.1:c.184+32811=	NM_001370273.1:c.184+32811C>T
RGS6 transcript variant 16	NM_001370274.1:c.184+32811=	NM_001370274.1:c.184+32811C>T
RGS6 transcript variant 17	NM_001370275.1:c.184+32811=	NM_001370275.1:c.184+32811C>T
RGS6 transcript variant 18	NM_001370276.1:c.184+32811=	NM_001370276.1:c.184+32811C>T
RGS6 transcript variant 19	NM_001370277.1:c.184+32811=	NM_001370277.1:c.184+32811C>T
RGS6 transcript variant 20	NM_001370278.1:c.184+32811=	NM_001370278.1:c.184+32811C>T
RGS6 transcript variant 21	NM_001370279.1:c.184+32811=	NM_001370279.1:c.184+32811C>T
RGS6 transcript variant 22	NM_001370280.1:c.184+32811=	NM_001370280.1:c.184+32811C>T
RGS6 transcript variant 23	NM_001370281.1:c.184+32811=	NM_001370281.1:c.184+32811C>T
RGS6 transcript variant 24	NM_001370282.1:c.184+32811=	NM_001370282.1:c.184+32811C>T
RGS6 transcript variant 25	NM_001370283.1:c.184+32811=	NM_001370283.1:c.184+32811C>T
RGS6 transcript variant 26	NM_001370284.1:c.184+32811=	NM_001370284.1:c.184+32811C>T
RGS6 transcript variant 27	NM_001370286.1:c.184+32811=	NM_001370286.1:c.184+32811C>T
RGS6 transcript variant 28	NM_001370287.1:c.184+32811=	NM_001370287.1:c.184+32811C>T
RGS6 transcript variant 29	NM_001370288.1:c.184+32811=	NM_001370288.1:c.184+32811C>T
RGS6 transcript variant 30	NM_001370289.1:c.184+32811=	NM_001370289.1:c.184+32811C>T
RGS6 transcript variant 31	NM_001370290.1:c.184+32811=	NM_001370290.1:c.184+32811C>T
RGS6 transcript variant 32	NM_001370291.1:c.184+32811=	NM_001370291.1:c.184+32811C>T
RGS6 transcript variant 33	NM_001370292.1:c.184+32811=	NM_001370292.1:c.184+32811C>T
RGS6 transcript variant 34	NM_001370293.1:c.184+32811=	NM_001370293.1:c.184+32811C>T
RGS6 transcript variant 35	NM_001370294.1:c.184+32811=	NM_001370294.1:c.184+32811C>T
RGS6 transcript variant 2	NM_004296.5:c.184+32811=	NM_004296.5:c.184+32811C>T
RGS6 transcript variant 2	NM_004296.7:c.184+32811=	NM_004296.7:c.184+32811C>T
RGS6 transcript variant X1	XM_005268231.1:c.184+32811=	XM_005268231.1:c.184+32811C>T
RGS6 transcript variant X3	XM_005268233.1:c.184+32811=	XM_005268233.1:c.184+32811C>T
RGS6 transcript variant X4	XM_005268234.1:c.184+32811=	XM_005268234.1:c.184+32811C>T
RGS6 transcript variant X5	XM_005268235.1:c.184+32811=	XM_005268235.1:c.184+32811C>T
RGS6 transcript variant X21	XM_005268236.1:c.184+32811=	XM_005268236.1:c.184+32811C>T
RGS6 transcript variant X4	XM_017021820.3:c.184+32811=	XM_017021820.3:c.184+32811C>T
RGS6 transcript variant X9	XM_017021822.3:c.184+32811=	XM_017021822.3:c.184+32811C>T
RGS6 transcript variant X11	XM_017021825.3:c.184+32811=	XM_017021825.3:c.184+32811C>T
RGS6 transcript variant X12	XM_017021826.3:c.184+32811=	XM_017021826.3:c.184+32811C>T
RGS6 transcript variant X13	XM_017021827.3:c.184+32811=	XM_017021827.3:c.184+32811C>T
RGS6 transcript variant X15	XM_017021828.3:c.184+32811=	XM_017021828.3:c.184+32811C>T
RGS6 transcript variant X16	XM_017021830.3:c.184+32811=	XM_017021830.3:c.184+32811C>T
RGS6 transcript variant X17	XM_017021831.3:c.184+32811=	XM_017021831.3:c.184+32811C>T
RGS6 transcript variant X18	XM_017021832.3:c.184+32811=	XM_017021832.3:c.184+32811C>T
RGS6 transcript variant X21	XM_017021833.3:c.184+32811=	XM_017021833.3:c.184+32811C>T
RGS6 transcript variant X1	XM_024449759.2:c.184+32811=	XM_024449759.2:c.184+32811C>T
RGS6 transcript variant X3	XM_024449760.2:c.184+32811=	XM_024449760.2:c.184+32811C>T
RGS6 transcript variant X2	XM_024449761.2:c.184+32811=	XM_024449761.2:c.184+32811C>T
RGS6 transcript variant X19	XM_024449776.2:c.184+32811=	XM_024449776.2:c.184+32811C>T
RGS6 transcript variant X10	XM_047431987.1:c.184+32811=	XM_047431987.1:c.184+32811C>T
RGS6 transcript variant X20	XM_047431990.1:c.184+32811=	XM_047431990.1:c.184+32811C>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#.

35 SubSNP, 13 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	COMPLETE_GENOMICS	ss169903117	Jul 04, 2010 (132)
2	1000GENOMES	ss338440263	May 09, 2011 (134)
3	TISHKOFF	ss564178914	Apr 25, 2013 (138)
4	SSMP	ss659868847	Apr 25, 2013 (138)
5	EVA-GONL	ss991299315	Aug 21, 2014 (142)
6	JMKIDD_LAB	ss1079768190	Aug 21, 2014 (142)
7	1000GENOMES	ss1351578639	Aug 21, 2014 (142)
8	DDI	ss1427466387	Apr 01, 2015 (144)
9	EVA_GENOME_DK	ss1577343443	Apr 01, 2015 (144)
10	EVA_UK10K_ALSPAC	ss1632046647	Apr 01, 2015 (144)
11	EVA_UK10K_TWINSUK	ss1675040680	Apr 01, 2015 (144)
12	EVA_DECODE	ss1695303249	Apr 01, 2015 (144)
13	HAMMER_LAB	ss1807982556	Sep 08, 2015 (146)
14	WEILL_CORNELL_DGM	ss1934669843	Feb 12, 2016 (147)
15	JJLAB	ss2028117058	Sep 14, 2016 (149)
16	HUMAN_LONGEVITY	ss2203175635	Dec 20, 2016 (150)
17	GNOMAD	ss2929333858	Nov 08, 2017 (151)
18	SWEGEN	ss3012435996	Nov 08, 2017 (151)
19	BIOINF_KMB_FNS_UNIBA	ss3027883028	Nov 08, 2017 (151)
20	CSHL	ss3350873729	Nov 08, 2017 (151)
21	EGCUT_WGS	ss3679693059	Jul 13, 2019 (153)
22	EVA_DECODE	ss3696962884	Jul 13, 2019 (153)
23	ACPOP	ss3740509612	Jul 13, 2019 (153)
24	EVA	ss3752499769	Jul 13, 2019 (153)
25	KHV_HUMAN_GENOMES	ss3817827016	Jul 13, 2019 (153)
26	EVA	ss3833993505	Apr 27, 2020 (154)
27	SGDP_PRJ	ss3881806933	Apr 27, 2020 (154)
28	TOPMED	ss4975647225	Apr 27, 2021 (155)
29	1000G_HIGH_COVERAGE	ss5296726190	Oct 17, 2022 (156)
30	HUGCELL_USP	ss5490720973	Oct 17, 2022 (156)
31	1000G_HIGH_COVERAGE	ss5597260210	Oct 17, 2022 (156)
32	SANFORD_IMAGENETICS	ss5656505830	Oct 17, 2022 (156)
33	EVA	ss5841308413	Oct 17, 2022 (156)
34	EVA	ss5901920538	Oct 17, 2022 (156)
35	EVA	ss5947952622	Oct 17, 2022 (156)
36	1000Genomes	NC_000014.8 - 72851713	Oct 12, 2018 (152)
37	1000Genomes_30x	NC_000014.9 - 72385005	Oct 17, 2022 (156)
38	The Avon Longitudinal Study of Parents and Children	NC_000014.8 - 72851713	Oct 12, 2018 (152)
39	Genetic variation in the Estonian population	NC_000014.8 - 72851713	Oct 12, 2018 (152)
40	The Danish reference pan genome	NC_000014.8 - 72851713	Apr 27, 2020 (154)
41	gnomAD - Genomes	NC_000014.9 - 72385005	Apr 27, 2021 (155)
42	Genome of the Netherlands Release 5	NC_000014.8 - 72851713	Apr 27, 2020 (154)
43	Northern Sweden	NC_000014.8 - 72851713	Jul 13, 2019 (153)
44	Qatari	NC_000014.8 - 72851713	Apr 27, 2020 (154)
45	SGDP_PRJ	NC_000014.8 - 72851713	Apr 27, 2020 (154)
46	TopMed	NC_000014.9 - 72385005	Apr 27, 2021 (155)
47	UK 10K study - Twins	NC_000014.8 - 72851713	Oct 12, 2018 (152)
48	ALFA	NC_000014.9 - 72385005	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss169903117, ss1695303249	NC_000014.7:71921465:C:T	NC_000014.9:72385004:C:T	(self)
64581129, 35886442, 25431307, 3663226, 16026424, 13794477, 16711773, 33823913, 35886442, ss338440263, ss564178914, ss659868847, ss991299315, ss1079768190, ss1351578639, ss1427466387, ss1577343443, ss1632046647, ss1675040680, ss1807982556, ss1934669843, ss2028117058, ss2929333858, ss3012435996, ss3350873729, ss3679693059, ss3740509612, ss3752499769, ss3833993505, ss3881806933, ss5656505830, ss5841308413, ss5947952622	NC_000014.8:72851712:C:T	NC_000014.9:72385004:C:T	(self)
84786145, 455345161, 191192884, 10381498977, ss2203175635, ss3027883028, ss3696962884, ss3817827016, ss4975647225, ss5296726190, ss5490720973, ss5597260210, ss5901920538	NC_000014.9:72385004:C:T	NC_000014.9:72385004:C:T	(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 rs111491620

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

rs111491620