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dbSNP Short Genetic Variations

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.

rs9658798

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:217070115 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.063300 (16755/264690, TOPMED)
A=0.068655 (9619/140106, GnomAD)
A=0.02010 (351/17462, ALFA) (+ 12 more)
A=0.0534 (342/6404, 1000G_30x)
A=0.0501 (251/5008, 1000G)
A=0.0458 (205/4480, Estonian)
A=0.0535 (206/3854, ALSPAC)
A=0.0475 (176/3708, TWINSUK)
A=0.052 (52/998, GoNL)
A=0.032 (19/600, NorthernSweden)
A=0.028 (6/216, Qatari)
A=0.03 (1/40, GENOME_DK)
G=0.46 (13/28, SGDP_PRJ)
G=0.5 (1/2, Siberian)
A=0.5 (1/2, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ESRRG : 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 17462 G=0.97990 A=0.02010, T=0.00000
European Sub 13582 G=0.97659 A=0.02341, T=0.00000
African Sub 2322 G=0.9905 A=0.0095, T=0.0000
African Others Sub 76 G=1.00 A=0.00, T=0.00
African American Sub 2246 G=0.9902 A=0.0098, T=0.0000
Asian Sub 112 G=1.000 A=0.000, T=0.000
East Asian Sub 86 G=1.00 A=0.00, T=0.00
Other Asian Sub 26 G=1.00 A=0.00, T=0.00
Latin American 1 Sub 126 G=1.000 A=0.000, T=0.000
Latin American 2 Sub 584 G=1.000 A=0.000, T=0.000
South Asian Sub 96 G=1.00 A=0.00, T=0.00
Other Sub 640 G=0.983 A=0.017, T=0.000


Help

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 G=0.936700 A=0.063300
gnomAD - Genomes Global Study-wide 140106 G=0.931345 A=0.068655
gnomAD - Genomes European Sub 75892 G=0.94608 A=0.05392
gnomAD - Genomes African Sub 41962 G=0.88494 A=0.11506
gnomAD - Genomes American Sub 13652 G=0.95913 A=0.04087
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.9922 A=0.0078
gnomAD - Genomes East Asian Sub 3130 G=0.9997 A=0.0003
gnomAD - Genomes Other Sub 2146 G=0.9469 A=0.0531
Allele Frequency Aggregator Total Global 17462 G=0.97990 A=0.02010, T=0.00000
Allele Frequency Aggregator European Sub 13582 G=0.97659 A=0.02341, T=0.00000
Allele Frequency Aggregator African Sub 2322 G=0.9905 A=0.0095, T=0.0000
Allele Frequency Aggregator Other Sub 640 G=0.983 A=0.017, T=0.000
Allele Frequency Aggregator Latin American 2 Sub 584 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 126 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 112 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 96 G=1.00 A=0.00, T=0.00
1000Genomes_30x Global Study-wide 6404 G=0.9466 A=0.0534
1000Genomes_30x African Sub 1786 G=0.8645 A=0.1355
1000Genomes_30x Europe Sub 1266 G=0.9605 A=0.0395
1000Genomes_30x South Asian Sub 1202 G=0.9942 A=0.0058
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=0.956 A=0.044
1000Genomes Global Study-wide 5008 G=0.9499 A=0.0501
1000Genomes African Sub 1322 G=0.8691 A=0.1309
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=0.9612 A=0.0388
1000Genomes South Asian Sub 978 G=0.993 A=0.007
1000Genomes American Sub 694 G=0.954 A=0.046
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9542 A=0.0458
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9465 A=0.0535
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9525 A=0.0475
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.948 A=0.052
Northern Sweden ACPOP Study-wide 600 G=0.968 A=0.032
Qatari Global Study-wide 216 G=0.972 A=0.028
The Danish reference pan genome Danish Study-wide 40 G=0.97 A=0.03
SGDP_PRJ Global Study-wide 28 G=0.46 A=0.54
Siberian Global Study-wide 2 G=0.5 A=0.5
Help

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.217070115G>A
GRCh38.p14 chr 1 NC_000001.11:g.217070115G>T
GRCh37.p13 chr 1 NC_000001.10:g.217243457G>A
GRCh37.p13 chr 1 NC_000001.10:g.217243457G>T
ESRRG RefSeqGene NG_029784.1:g.72641C>T
ESRRG RefSeqGene NG_029784.1:g.72641C>A
Gene: ESRRG, estrogen related receptor gamma (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ESRRG transcript variant 4 NM_001134285.3:c.-230+675…

NM_001134285.3:c.-230+67552C>T

N/A Intron Variant
ESRRG transcript variant 6 NM_001243505.2:c.-375+196…

NM_001243505.2:c.-375+19672C>T

N/A Intron Variant
ESRRG transcript variant 7 NM_001243506.2:c.-176+193…

NM_001243506.2:c.-176+19392C>T

N/A Intron Variant
ESRRG transcript variant 8 NM_001243507.2:c.-604+673…

NM_001243507.2:c.-604+6737C>T

N/A Intron Variant
ESRRG transcript variant 9 NM_001243509.2:c.-578+673…

NM_001243509.2:c.-578+6737C>T

N/A Intron Variant
ESRRG transcript variant 10 NM_001243510.3:c.-224+675…

NM_001243510.3:c.-224+67552C>T

N/A Intron Variant
ESRRG transcript variant 11 NM_001243511.3:c.-106+675…

NM_001243511.3:c.-106+67552C>T

N/A Intron Variant
ESRRG transcript variant 18 NM_001350122.2:c.-442-263…

NM_001350122.2:c.-442-263C>T

N/A Intron Variant
ESRRG transcript variant 19 NM_001350123.2:c.-225+193…

NM_001350123.2:c.-225+19392C>T

N/A Intron Variant
ESRRG transcript variant 20 NM_001350124.2:c.-403+675…

NM_001350124.2:c.-403+67552C>T

N/A Intron Variant
ESRRG transcript variant 21 NM_001350125.2:c.-263-263…

NM_001350125.2:c.-263-263C>T

N/A Intron Variant
ESRRG transcript variant 2 NM_206594.3:c.-224+19392C…

NM_206594.3:c.-224+19392C>T

N/A Intron Variant
ESRRG transcript variant 3 NM_206595.3:c.-106+19392C…

NM_206595.3:c.-106+19392C>T

N/A Intron Variant
ESRRG transcript variant 12 NM_001243512.1:c. N/A Genic Upstream Transcript Variant
ESRRG transcript variant 13 NM_001243513.1:c. N/A Genic Upstream Transcript Variant
ESRRG transcript variant 14 NM_001243514.2:c. N/A Genic Upstream Transcript Variant
ESRRG transcript variant 15 NM_001243515.2:c. N/A Genic Upstream Transcript Variant
ESRRG transcript variant 16 NM_001243518.2:c. N/A Genic Upstream Transcript Variant
ESRRG transcript variant 17 NM_001243519.2:c. N/A Genic Upstream Transcript Variant
ESRRG transcript variant 1 NM_001438.4:c. N/A Genic Upstream Transcript Variant
ESRRG transcript variant X3 XM_011509265.4:c.-437+673…

XM_011509265.4:c.-437+6737C>T

N/A Intron Variant
ESRRG transcript variant X2 XM_017000621.3:c.-594-263…

XM_017000621.3:c.-594-263C>T

N/A Intron Variant
ESRRG transcript variant X4 XM_017000622.2:c.-437+193…

XM_017000622.2:c.-437+19392C>T

N/A Intron Variant
ESRRG transcript variant X6 XM_017000624.3:c.-437+802…

XM_017000624.3:c.-437+8021C>T

N/A Intron Variant
ESRRG transcript variant X7 XM_017000625.2:c.-437+675…

XM_017000625.2:c.-437+67552C>T

N/A Intron Variant
ESRRG transcript variant X33 XM_017000637.2:c.-403+802…

XM_017000637.2:c.-403+8021C>T

N/A Intron Variant
ESRRG transcript variant X14 XM_047449371.1:c.-471+193…

XM_047449371.1:c.-471+19392C>T

N/A Intron Variant
ESRRG transcript variant X35 XM_047449402.1:c.-14+8021…

XM_047449402.1:c.-14+8021C>T

N/A Intron Variant
ESRRG transcript variant X1 XM_047449307.1:c.-857= N/A 5 Prime UTR Variant
ESRRG transcript variant X8 XM_011509266.4:c.-857= N/A 5 Prime UTR Variant
ESRRG transcript variant X9 XM_047449344.1:c.-1102= N/A 5 Prime UTR Variant
ESRRG transcript variant X10 XM_047449351.1:c.-983= N/A 5 Prime UTR Variant
ESRRG transcript variant X11 XM_047449362.1:c.-807= N/A 5 Prime UTR Variant
ESRRG transcript variant X13 XM_047449368.1:c.-570= N/A 5 Prime UTR Variant
ESRRG transcript variant X18 XM_047449389.1:c.-1102= N/A 5 Prime UTR Variant
ESRRG transcript variant X20 XM_047449391.1:c.-879= N/A 5 Prime UTR Variant
ESRRG transcript variant X21 XM_047449392.1:c.-642= N/A 5 Prime UTR Variant
ESRRG transcript variant X25 XM_017000631.3:c.-763= N/A 5 Prime UTR Variant
ESRRG transcript variant X26 XM_047449395.1:c.-1058= N/A 5 Prime UTR Variant
ESRRG transcript variant X27 XM_047449396.1:c.-939= N/A 5 Prime UTR Variant
ESRRG transcript variant X28 XM_047449397.1:c.-876= N/A 5 Prime UTR Variant
ESRRG transcript variant X29 XM_017000632.3:c.-942= N/A 5 Prime UTR Variant
ESRRG transcript variant X30 XM_047449398.1:c.-526= N/A 5 Prime UTR Variant
ESRRG transcript variant X31 XM_017000634.3:c.-645= N/A 5 Prime UTR Variant
ESRRG transcript variant X12 XM_011509267.1:c. N/A Genic Upstream Transcript Variant
ESRRG transcript variant X15 XM_011509268.3:c. N/A Genic Upstream Transcript Variant
ESRRG transcript variant X16 XM_011509269.3:c. N/A Genic Upstream Transcript Variant
ESRRG transcript variant X23 XM_011509271.3:c. N/A Genic Upstream Transcript Variant
ESRRG transcript variant X5 XM_017000623.3:c. N/A Genic Upstream Transcript Variant
ESRRG transcript variant X32 XM_017000636.3:c. N/A Genic Upstream Transcript Variant
ESRRG transcript variant X17 XM_047449385.1:c. N/A Genic Upstream Transcript Variant
ESRRG transcript variant X19 XM_047449390.1:c. N/A Genic Upstream Transcript Variant
ESRRG transcript variant X22 XM_047449393.1:c. N/A Genic Upstream Transcript Variant
ESRRG transcript variant X24 XM_047449394.1:c. N/A Genic Upstream Transcript Variant
ESRRG transcript variant X34 XM_047449401.1:c. N/A Genic Upstream Transcript Variant
ESRRG transcript variant X36 XM_047449403.1:c. N/A Genic Upstream Transcript Variant
Help

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
Help

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 T
GRCh38.p14 chr 1 NC_000001.11:g.217070115= NC_000001.11:g.217070115G>A NC_000001.11:g.217070115G>T
GRCh37.p13 chr 1 NC_000001.10:g.217243457= NC_000001.10:g.217243457G>A NC_000001.10:g.217243457G>T
ESRRG RefSeqGene NG_029784.1:g.72641= NG_029784.1:g.72641C>T NG_029784.1:g.72641C>A
ESRRG transcript variant X8 XM_011509266.4:c.-857= XM_011509266.4:c.-857C>T XM_011509266.4:c.-857C>A
ESRRG transcript variant X7 XM_011509266.3:c.-857= XM_011509266.3:c.-857C>T XM_011509266.3:c.-857C>A
ESRRG transcript variant X29 XM_017000632.3:c.-942= XM_017000632.3:c.-942C>T XM_017000632.3:c.-942C>A
ESRRG transcript variant X18 XM_017000632.2:c.-942= XM_017000632.2:c.-942C>T XM_017000632.2:c.-942C>A
ESRRG transcript variant X25 XM_017000631.3:c.-763= XM_017000631.3:c.-763C>T XM_017000631.3:c.-763C>A
ESRRG transcript variant X16 XM_017000631.2:c.-763= XM_017000631.2:c.-763C>T XM_017000631.2:c.-763C>A
ESRRG transcript variant X31 XM_017000634.3:c.-645= XM_017000634.3:c.-645C>T XM_017000634.3:c.-645C>A
ESRRG transcript variant X19 XM_017000634.2:c.-645= XM_017000634.2:c.-645C>T XM_017000634.2:c.-645C>A
ESRRG transcript variant X9 XM_047449344.1:c.-1102= XM_047449344.1:c.-1102C>T XM_047449344.1:c.-1102C>A
ESRRG transcript variant X18 XM_047449389.1:c.-1102= XM_047449389.1:c.-1102C>T XM_047449389.1:c.-1102C>A
ESRRG transcript variant X10 XM_047449351.1:c.-983= XM_047449351.1:c.-983C>T XM_047449351.1:c.-983C>A
ESRRG transcript variant X26 XM_047449395.1:c.-1058= XM_047449395.1:c.-1058C>T XM_047449395.1:c.-1058C>A
ESRRG transcript variant X1 XM_047449307.1:c.-857= XM_047449307.1:c.-857C>T XM_047449307.1:c.-857C>A
ESRRG transcript variant X27 XM_047449396.1:c.-939= XM_047449396.1:c.-939C>T XM_047449396.1:c.-939C>A
ESRRG transcript variant X20 XM_047449391.1:c.-879= XM_047449391.1:c.-879C>T XM_047449391.1:c.-879C>A
ESRRG transcript variant X11 XM_047449362.1:c.-807= XM_047449362.1:c.-807C>T XM_047449362.1:c.-807C>A
ESRRG transcript variant X28 XM_047449397.1:c.-876= XM_047449397.1:c.-876C>T XM_047449397.1:c.-876C>A
ESRRG transcript variant X21 XM_047449392.1:c.-642= XM_047449392.1:c.-642C>T XM_047449392.1:c.-642C>A
ESRRG transcript variant X13 XM_047449368.1:c.-570= XM_047449368.1:c.-570C>T XM_047449368.1:c.-570C>A
ESRRG transcript variant X30 XM_047449398.1:c.-526= XM_047449398.1:c.-526C>T XM_047449398.1:c.-526C>A
ESRRG transcript variant 4 NM_001134285.2:c.-230+67552= NM_001134285.2:c.-230+67552C>T NM_001134285.2:c.-230+67552C>A
ESRRG transcript variant 4 NM_001134285.3:c.-230+67552= NM_001134285.3:c.-230+67552C>T NM_001134285.3:c.-230+67552C>A
ESRRG transcript variant 6 NM_001243505.1:c.-375+19672= NM_001243505.1:c.-375+19672C>T NM_001243505.1:c.-375+19672C>A
ESRRG transcript variant 6 NM_001243505.2:c.-375+19672= NM_001243505.2:c.-375+19672C>T NM_001243505.2:c.-375+19672C>A
ESRRG transcript variant 7 NM_001243506.1:c.-176+19392= NM_001243506.1:c.-176+19392C>T NM_001243506.1:c.-176+19392C>A
ESRRG transcript variant 7 NM_001243506.2:c.-176+19392= NM_001243506.2:c.-176+19392C>T NM_001243506.2:c.-176+19392C>A
ESRRG transcript variant 8 NM_001243507.1:c.-604+6737= NM_001243507.1:c.-604+6737C>T NM_001243507.1:c.-604+6737C>A
ESRRG transcript variant 8 NM_001243507.2:c.-604+6737= NM_001243507.2:c.-604+6737C>T NM_001243507.2:c.-604+6737C>A
ESRRG transcript variant 9 NM_001243509.1:c.-578+6737= NM_001243509.1:c.-578+6737C>T NM_001243509.1:c.-578+6737C>A
ESRRG transcript variant 9 NM_001243509.2:c.-578+6737= NM_001243509.2:c.-578+6737C>T NM_001243509.2:c.-578+6737C>A
ESRRG transcript variant 10 NM_001243510.3:c.-224+67552= NM_001243510.3:c.-224+67552C>T NM_001243510.3:c.-224+67552C>A
ESRRG transcript variant 11 NM_001243511.3:c.-106+67552= NM_001243511.3:c.-106+67552C>T NM_001243511.3:c.-106+67552C>A
ESRRG transcript variant 18 NM_001350122.2:c.-442-263= NM_001350122.2:c.-442-263C>T NM_001350122.2:c.-442-263C>A
ESRRG transcript variant 19 NM_001350123.2:c.-225+19392= NM_001350123.2:c.-225+19392C>T NM_001350123.2:c.-225+19392C>A
ESRRG transcript variant 20 NM_001350124.2:c.-403+67552= NM_001350124.2:c.-403+67552C>T NM_001350124.2:c.-403+67552C>A
ESRRG transcript variant 21 NM_001350125.2:c.-263-263= NM_001350125.2:c.-263-263C>T NM_001350125.2:c.-263-263C>A
ESRRG transcript variant 2 NM_206594.2:c.-224+19392= NM_206594.2:c.-224+19392C>T NM_206594.2:c.-224+19392C>A
ESRRG transcript variant 2 NM_206594.3:c.-224+19392= NM_206594.3:c.-224+19392C>T NM_206594.3:c.-224+19392C>A
ESRRG transcript variant 3 NM_206595.2:c.-106+19392= NM_206595.2:c.-106+19392C>T NM_206595.2:c.-106+19392C>A
ESRRG transcript variant 3 NM_206595.3:c.-106+19392= NM_206595.3:c.-106+19392C>T NM_206595.3:c.-106+19392C>A
ESRRG transcript variant X3 XM_011509265.4:c.-437+6737= XM_011509265.4:c.-437+6737C>T XM_011509265.4:c.-437+6737C>A
ESRRG transcript variant X2 XM_017000621.3:c.-594-263= XM_017000621.3:c.-594-263C>T XM_017000621.3:c.-594-263C>A
ESRRG transcript variant X4 XM_017000622.2:c.-437+19392= XM_017000622.2:c.-437+19392C>T XM_017000622.2:c.-437+19392C>A
ESRRG transcript variant X6 XM_017000624.3:c.-437+8021= XM_017000624.3:c.-437+8021C>T XM_017000624.3:c.-437+8021C>A
ESRRG transcript variant X7 XM_017000625.2:c.-437+67552= XM_017000625.2:c.-437+67552C>T XM_017000625.2:c.-437+67552C>A
ESRRG transcript variant X33 XM_017000637.2:c.-403+8021= XM_017000637.2:c.-403+8021C>T XM_017000637.2:c.-403+8021C>A
ESRRG transcript variant X14 XM_047449371.1:c.-471+19392= XM_047449371.1:c.-471+19392C>T XM_047449371.1:c.-471+19392C>A
ESRRG transcript variant X35 XM_047449402.1:c.-14+8021= XM_047449402.1:c.-14+8021C>T XM_047449402.1:c.-14+8021C>A
Help

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#.

42 SubSNP, 14 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss13453293 Dec 05, 2003 (119)
2 CSHL-HAPMAP ss16384102 Feb 27, 2004 (120)
3 SSAHASNP ss20429277 Apr 05, 2004 (121)
4 ABI ss44028360 Mar 15, 2006 (126)
5 HUMANGENOME_JCVI ss99287419 Feb 05, 2009 (130)
6 ENSEMBL ss131746842 Dec 01, 2009 (131)
7 BUSHMAN ss199612156 Jul 04, 2010 (132)
8 1000GENOMES ss218883002 Jul 14, 2010 (132)
9 PJP ss290734254 May 09, 2011 (134)
10 TISHKOFF ss555140284 Apr 25, 2013 (138)
11 EVA-GONL ss976146142 Aug 21, 2014 (142)
12 JMKIDD_LAB ss1068602621 Aug 21, 2014 (142)
13 1000GENOMES ss1294657682 Aug 21, 2014 (142)
14 EVA_GENOME_DK ss1574680460 Apr 01, 2015 (144)
15 EVA_DECODE ss1585542741 Apr 01, 2015 (144)
16 EVA_UK10K_ALSPAC ss1602144435 Apr 01, 2015 (144)
17 EVA_UK10K_TWINSUK ss1645138468 Apr 01, 2015 (144)
18 WEILL_CORNELL_DGM ss1919370130 Feb 12, 2016 (147)
19 JJLAB ss2020207695 Sep 14, 2016 (149)
20 USC_VALOUEV ss2148238595 Dec 20, 2016 (150)
21 HUMAN_LONGEVITY ss2170103569 Dec 20, 2016 (150)
22 GNOMAD ss2766232446 Nov 08, 2017 (151)
23 SWEGEN ss2988453228 Nov 08, 2017 (151)
24 CSHL ss3343912223 Nov 08, 2017 (151)
25 URBANLAB ss3646887508 Oct 11, 2018 (152)
26 EGCUT_WGS ss3656413767 Jul 12, 2019 (153)
27 EVA_DECODE ss3688633351 Jul 12, 2019 (153)
28 ACPOP ss3727864206 Jul 12, 2019 (153)
29 EVA ss3747337294 Jul 12, 2019 (153)
30 KHV_HUMAN_GENOMES ss3800341739 Jul 12, 2019 (153)
31 EVA ss3826644119 Apr 25, 2020 (154)
32 SGDP_PRJ ss3850900894 Apr 25, 2020 (154)
33 TOPMED ss4483632883 Apr 27, 2021 (155)
34 1000G_HIGH_COVERAGE ss5245802700 Oct 17, 2022 (156)
35 EVA ss5324804148 Oct 17, 2022 (156)
36 HUGCELL_USP ss5446239756 Oct 17, 2022 (156)
37 EVA ss5506186385 Oct 17, 2022 (156)
38 1000G_HIGH_COVERAGE ss5519904045 Oct 17, 2022 (156)
39 SANFORD_IMAGENETICS ss5627452078 Oct 17, 2022 (156)
40 EVA ss5833263507 Oct 17, 2022 (156)
41 EVA ss5911983338 Oct 17, 2022 (156)
42 EVA ss5939289913 Oct 17, 2022 (156)
43 1000Genomes NC_000001.10 - 217243457 Oct 11, 2018 (152)
44 1000Genomes_30x NC_000001.11 - 217070115 Oct 17, 2022 (156)
45 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 217243457 Oct 11, 2018 (152)
46 Genetic variation in the Estonian population NC_000001.10 - 217243457 Oct 11, 2018 (152)
47 The Danish reference pan genome NC_000001.10 - 217243457 Apr 25, 2020 (154)
48 gnomAD - Genomes NC_000001.11 - 217070115 Apr 27, 2021 (155)
49 Genome of the Netherlands Release 5 NC_000001.10 - 217243457 Apr 25, 2020 (154)
50 Northern Sweden NC_000001.10 - 217243457 Jul 12, 2019 (153)
51 Qatari NC_000001.10 - 217243457 Apr 25, 2020 (154)
52 SGDP_PRJ NC_000001.10 - 217243457 Apr 25, 2020 (154)
53 Siberian NC_000001.10 - 217243457 Apr 25, 2020 (154)
54 TopMed NC_000001.11 - 217070115 Apr 27, 2021 (155)
55 UK 10K study - Twins NC_000001.10 - 217243457 Oct 11, 2018 (152)
56 ALFA NC_000001.11 - 217070115 Apr 27, 2021 (155)
Help

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
ss199612156, ss290734254, ss1585542741 NC_000001.9:215310079:G:A NC_000001.11:217070114:G:A (self)
5512483, 3043982, 2152015, 1885025, 1329368, 1149071, 1412060, 2917874, 754949, 3043982, ss218883002, ss555140284, ss976146142, ss1068602621, ss1294657682, ss1574680460, ss1602144435, ss1645138468, ss1919370130, ss2020207695, ss2148238595, ss2766232446, ss2988453228, ss3343912223, ss3656413767, ss3727864206, ss3747337294, ss3826644119, ss3850900894, ss5324804148, ss5506186385, ss5627452078, ss5833263507, ss5939289913 NC_000001.10:217243456:G:A NC_000001.11:217070114:G:A (self)
7429980, 39626485, 47239218, 9710826144, ss2170103569, ss3646887508, ss3688633351, ss3800341739, ss4483632883, ss5245802700, ss5446239756, ss5519904045, ss5911983338 NC_000001.11:217070114:G:A NC_000001.11:217070114:G:A (self)
ss13453293, ss16384102, ss20429277 NT_021877.16:10679362:G:A NC_000001.11:217070114:G:A (self)
ss44028360, ss99287419, ss131746842 NT_167186.1:10761235:G:A NC_000001.11:217070114:G:A (self)
9710826144 NC_000001.11:217070114:G:T NC_000001.11:217070114:G:T (self)
Help

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

No publications for rs9658798

Help

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.

Software version is: 2.0.1.post761+d5e8e07