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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs2277619

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:42223543 (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=0.000102 (27/264690, TOPMED)
A=0.000219 (55/251466, GnomAD_exome)
A=0.000071 (10/140210, GnomAD) (+ 12 more)
A=0.000214 (26/121354, ExAC)
A=0.00001 (1/98550, ALFA)
A=0.01854 (524/28258, 14KJPN)
A=0.01766 (296/16760, 8.3KJPN)
A=0.0003 (2/6404, 1000G_30x)
A=0.0004 (2/5008, 1000G)
A=0.0113 (33/2922, KOREAN)
A=0.0066 (12/1832, Korea1K)
A=0.006 (3/510, HapMap)
A=0.00 (0/66, Ancient Sardinia)
G=0.5 (1/2, SGDP_PRJ)
A=0.5 (1/2, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
STAT5B : Missense 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 98550 G=0.99999 A=0.00001
European Sub 83440 G=1.00000 A=0.00000
African Sub 6538 G=1.0000 A=0.0000
African Others Sub 238 G=1.000 A=0.000
African American Sub 6300 G=1.0000 A=0.0000
Asian Sub 616 G=0.998 A=0.002
East Asian Sub 486 G=0.998 A=0.002
Other Asian Sub 130 G=1.000 A=0.000
Latin American 1 Sub 666 G=1.000 A=0.000
Latin American 2 Sub 2188 G=1.0000 A=0.0000
South Asian Sub 184 G=1.000 A=0.000
Other Sub 4918 G=1.0000 A=0.0000


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=0.999898 A=0.000102
gnomAD - Exomes Global Study-wide 251466 G=0.999781 A=0.000219
gnomAD - Exomes European Sub 135398 G=1.000000 A=0.000000
gnomAD - Exomes Asian Sub 49010 G=0.99890 A=0.00110
gnomAD - Exomes American Sub 34590 G=1.00000 A=0.00000
gnomAD - Exomes African Sub 16256 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10078 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6134 G=0.9998 A=0.0002
gnomAD - Genomes Global Study-wide 140210 G=0.999929 A=0.000071
gnomAD - Genomes European Sub 75930 G=1.00000 A=0.00000
gnomAD - Genomes African Sub 42024 G=1.00000 A=0.00000
gnomAD - Genomes American Sub 13654 G=0.99993 A=0.00007
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3130 G=0.9971 A=0.0029
gnomAD - Genomes Other Sub 2148 G=1.0000 A=0.0000
ExAC Global Study-wide 121354 G=0.999786 A=0.000214
ExAC Europe Sub 73318 G=1.00000 A=0.00000
ExAC Asian Sub 25162 G=0.99897 A=0.00103
ExAC American Sub 11574 G=1.00000 A=0.00000
ExAC African Sub 10392 G=1.00000 A=0.00000
ExAC Other Sub 908 G=1.000 A=0.000
Allele Frequency Aggregator Total Global 98550 G=0.99999 A=0.00001
Allele Frequency Aggregator European Sub 83440 G=1.00000 A=0.00000
Allele Frequency Aggregator African Sub 6538 G=1.0000 A=0.0000
Allele Frequency Aggregator Other Sub 4918 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 2188 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 1 Sub 666 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 616 G=0.998 A=0.002
Allele Frequency Aggregator South Asian Sub 184 G=1.000 A=0.000
14KJPN JAPANESE Study-wide 28258 G=0.98146 A=0.01854
8.3KJPN JAPANESE Study-wide 16760 G=0.98234 A=0.01766
1000Genomes_30x Global Study-wide 6404 G=0.9997 A=0.0003
1000Genomes_30x African Sub 1786 G=1.0000 A=0.0000
1000Genomes_30x Europe Sub 1266 G=1.0000 A=0.0000
1000Genomes_30x South Asian Sub 1202 G=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 G=0.9983 A=0.0017
1000Genomes_30x American Sub 980 G=1.000 A=0.000
1000Genomes Global Study-wide 5008 G=0.9996 A=0.0004
1000Genomes African Sub 1322 G=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 G=0.9980 A=0.0020
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=1.000 A=0.000
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9887 A=0.0113
Korean Genome Project KOREAN Study-wide 1832 G=0.9934 A=0.0066
HapMap Global Study-wide 510 G=0.994 A=0.006
HapMap American Sub 220 G=0.995 A=0.005
HapMap Asian Sub 172 G=0.988 A=0.012
HapMap African Sub 118 G=1.000 A=0.000
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 66 G=1.00 A=0.00
SGDP_PRJ 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 17 NC_000017.11:g.42223543G>A
GRCh37.p13 chr 17 NC_000017.10:g.40375561G>A
STAT5B RefSeqGene (LRG_192) NG_007271.1:g.57864C>T
Gene: STAT5B, signal transducer and activator of transcription 5B (minus strand)
Molecule type Change Amino acid[Codon] SO Term
STAT5B transcript NM_012448.4:c.389C>T A [GCT] > V [GTT] Coding Sequence Variant
signal transducer and activator of transcription 5B NP_036580.2:p.Ala130Val A (Ala) > V (Val) Missense Variant
STAT5B transcript variant X1 XM_024450897.2:c.389C>T A [GCT] > V [GTT] Coding Sequence Variant
signal transducer and activator of transcription 5B isoform X1 XP_024306665.1:p.Ala130Val A (Ala) > V (Val) Missense Variant
STAT5B transcript variant X2 XM_024450898.2:c.389C>T A [GCT] > V [GTT] Coding Sequence Variant
signal transducer and activator of transcription 5B isoform X1 XP_024306666.1:p.Ala130Val A (Ala) > V (Val) Missense Variant
STAT5B transcript variant X3 XM_017024977.2:c.107C>T A [GCT] > V [GTT] Coding Sequence Variant
signal transducer and activator of transcription 5B isoform X2 XP_016880466.1:p.Ala36Val A (Ala) > V (Val) Missense Variant
STAT5B transcript variant X4 XM_047436593.1:c.107C>T A [GCT] > V [GTT] Coding Sequence Variant
signal transducer and activator of transcription 5B isoform X2 XP_047292549.1:p.Ala36Val A (Ala) > V (Val) Missense Variant
STAT5B transcript variant X5 XM_005257626.5:c.389C>T A [GCT] > V [GTT] Coding Sequence Variant
signal transducer and activator of transcription 5B isoform X3 XP_005257683.1:p.Ala130Val A (Ala) > V (Val) Missense 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.

Allele: A (allele ID: 740749 )
ClinVar Accession Disease Names Clinical Significance
RCV000906900.3 not provided Likely-Benign
RCV001433639.3 Growth hormone insensitivity with immune dysregulation 1, autosomal recessive Likely-Benign
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
GRCh38.p14 chr 17 NC_000017.11:g.42223543= NC_000017.11:g.42223543G>A
GRCh37.p13 chr 17 NC_000017.10:g.40375561= NC_000017.10:g.40375561G>A
STAT5B RefSeqGene (LRG_192) NG_007271.1:g.57864= NG_007271.1:g.57864C>T
STAT5B transcript NM_012448.4:c.389= NM_012448.4:c.389C>T
STAT5B transcript NM_012448.3:c.389= NM_012448.3:c.389C>T
STAT5B transcript variant X5 XM_005257626.5:c.389= XM_005257626.5:c.389C>T
STAT5B transcript variant X4 XM_005257626.4:c.389= XM_005257626.4:c.389C>T
STAT5B transcript variant X2 XM_005257626.3:c.389= XM_005257626.3:c.389C>T
STAT5B transcript variant X2 XM_005257626.2:c.389= XM_005257626.2:c.389C>T
STAT5B transcript variant X2 XM_005257626.1:c.389= XM_005257626.1:c.389C>T
STAT5B transcript variant X2 XM_024450898.2:c.389= XM_024450898.2:c.389C>T
STAT5B transcript variant X2 XM_024450898.1:c.389= XM_024450898.1:c.389C>T
STAT5B transcript variant X1 XM_024450897.2:c.389= XM_024450897.2:c.389C>T
STAT5B transcript variant X1 XM_024450897.1:c.389= XM_024450897.1:c.389C>T
STAT5B transcript variant X3 XM_017024977.2:c.107= XM_017024977.2:c.107C>T
STAT5B transcript variant X3 XM_017024977.1:c.107= XM_017024977.1:c.107C>T
STAT5B transcript variant X4 XM_047436593.1:c.107= XM_047436593.1:c.107C>T
signal transducer and activator of transcription 5B NP_036580.2:p.Ala130= NP_036580.2:p.Ala130Val
signal transducer and activator of transcription 5B isoform X3 XP_005257683.1:p.Ala130= XP_005257683.1:p.Ala130Val
signal transducer and activator of transcription 5B isoform X1 XP_024306666.1:p.Ala130= XP_024306666.1:p.Ala130Val
signal transducer and activator of transcription 5B isoform X1 XP_024306665.1:p.Ala130= XP_024306665.1:p.Ala130Val
signal transducer and activator of transcription 5B isoform X2 XP_016880466.1:p.Ala36= XP_016880466.1:p.Ala36Val
signal transducer and activator of transcription 5B isoform X2 XP_047292549.1:p.Ala36= XP_047292549.1:p.Ala36Val
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#.

56 SubSNP, 14 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3214536 Sep 28, 2001 (100)
2 AFFY ss74806047 Aug 16, 2007 (128)
3 ILLUMINA ss74904778 Dec 06, 2007 (129)
4 KRIBB_YJKIM ss119426538 Dec 01, 2009 (131)
5 ILLUMINA ss160526821 Dec 01, 2009 (131)
6 ILLUMINA ss173240522 Jul 04, 2010 (132)
7 ILLUMINA ss244289077 Jul 04, 2010 (132)
8 ILLUMINA ss480501090 May 04, 2012 (137)
9 ILLUMINA ss480515467 May 04, 2012 (137)
10 ILLUMINA ss481321614 Sep 08, 2015 (146)
11 ILLUMINA ss485048044 May 04, 2012 (137)
12 1000GENOMES ss489111707 May 04, 2012 (137)
13 ILLUMINA ss537067602 Sep 08, 2015 (146)
14 ILLUMINA ss778489298 Aug 21, 2014 (142)
15 ILLUMINA ss782970240 Aug 21, 2014 (142)
16 ILLUMINA ss783931833 Aug 21, 2014 (142)
17 ILLUMINA ss832226556 Apr 01, 2015 (144)
18 ILLUMINA ss833945278 Aug 21, 2014 (142)
19 1000GENOMES ss1358650686 Aug 21, 2014 (142)
20 EVA_EXAC ss1692786351 Apr 01, 2015 (144)
21 EVA_SVP ss1713582535 Apr 01, 2015 (144)
22 ILLUMINA ss1752225680 Sep 08, 2015 (146)
23 HUMAN_LONGEVITY ss2216832904 Dec 20, 2016 (150)
24 ILLUMINA ss2633396786 Nov 08, 2017 (151)
25 GRF ss2702092811 Nov 08, 2017 (151)
26 GNOMAD ss2742727906 Nov 08, 2017 (151)
27 GNOMAD ss2749778087 Nov 08, 2017 (151)
28 GNOMAD ss2949852056 Nov 08, 2017 (151)
29 ILLUMINA ss3627669464 Oct 12, 2018 (152)
30 ILLUMINA ss3631377899 Oct 12, 2018 (152)
31 ILLUMINA ss3633141530 Oct 12, 2018 (152)
32 ILLUMINA ss3633849051 Oct 12, 2018 (152)
33 ILLUMINA ss3634675198 Oct 12, 2018 (152)
34 ILLUMINA ss3635536808 Oct 12, 2018 (152)
35 ILLUMINA ss3636365085 Oct 12, 2018 (152)
36 ILLUMINA ss3637288354 Oct 12, 2018 (152)
37 ILLUMINA ss3638161242 Oct 12, 2018 (152)
38 ILLUMINA ss3640382511 Oct 12, 2018 (152)
39 ILLUMINA ss3643139681 Oct 12, 2018 (152)
40 ILLUMINA ss3744975494 Jul 13, 2019 (153)
41 EVA ss3754666382 Jul 13, 2019 (153)
42 ILLUMINA ss3772473370 Jul 13, 2019 (153)
43 SGDP_PRJ ss3885747609 Apr 27, 2020 (154)
44 KRGDB ss3935430714 Apr 27, 2020 (154)
45 KOGIC ss3978839367 Apr 27, 2020 (154)
46 EVA ss3985791116 Apr 27, 2021 (155)
47 EVA ss4017766753 Apr 27, 2021 (155)
48 TOPMED ss5035935379 Apr 27, 2021 (155)
49 TOMMO_GENOMICS ss5222407475 Apr 27, 2021 (155)
50 1000G_HIGH_COVERAGE ss5303128633 Oct 16, 2022 (156)
51 EVA ss5427587779 Oct 16, 2022 (156)
52 HUGCELL_USP ss5496185242 Oct 16, 2022 (156)
53 1000G_HIGH_COVERAGE ss5606847010 Oct 16, 2022 (156)
54 TOMMO_GENOMICS ss5778612321 Oct 16, 2022 (156)
55 EVA ss5913954357 Oct 16, 2022 (156)
56 EVA ss5951495341 Oct 16, 2022 (156)
57 1000Genomes NC_000017.10 - 40375561 Oct 12, 2018 (152)
58 1000Genomes_30x NC_000017.11 - 42223543 Oct 16, 2022 (156)
59 ExAC NC_000017.10 - 40375561 Oct 12, 2018 (152)
60 gnomAD - Genomes NC_000017.11 - 42223543 Apr 27, 2021 (155)
61 gnomAD - Exomes NC_000017.10 - 40375561 Jul 13, 2019 (153)
62 HapMap NC_000017.11 - 42223543 Apr 27, 2020 (154)
63 KOREAN population from KRGDB NC_000017.10 - 40375561 Apr 27, 2020 (154)
64 Korean Genome Project NC_000017.11 - 42223543 Apr 27, 2020 (154)
65 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000017.10 - 40375561 Apr 27, 2021 (155)
66 SGDP_PRJ NC_000017.10 - 40375561 Apr 27, 2020 (154)
67 8.3KJPN NC_000017.10 - 40375561 Apr 27, 2021 (155)
68 14KJPN NC_000017.11 - 42223543 Oct 16, 2022 (156)
69 TopMed NC_000017.11 - 42223543 Apr 27, 2021 (155)
70 ALFA NC_000017.11 - 42223543 Apr 27, 2021 (155)
71 ClinVar RCV000906900.3 Oct 16, 2022 (156)
72 ClinVar RCV001433639.3 Oct 16, 2022 (156)
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).

Associated ID History Updated (Build)
rs52823146 Sep 21, 2007 (128)
rs386563355 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss480501090, ss1713582535, ss3643139681 NC_000017.9:37629086:G:A NC_000017.11:42223542:G:A (self)
71892148, 3230317, 12032331, 42608108, 1017043, 37764589, 80376782, ss480515467, ss481321614, ss485048044, ss489111707, ss537067602, ss778489298, ss782970240, ss783931833, ss832226556, ss833945278, ss1358650686, ss1692786351, ss1752225680, ss2633396786, ss2702092811, ss2742727906, ss2749778087, ss2949852056, ss3627669464, ss3631377899, ss3633141530, ss3633849051, ss3634675198, ss3635536808, ss3636365085, ss3637288354, ss3638161242, ss3640382511, ss3744975494, ss3754666382, ss3772473370, ss3885747609, ss3935430714, ss3985791116, ss4017766753, ss5222407475, ss5427587779, ss5951495341 NC_000017.10:40375560:G:A NC_000017.11:42223542:G:A (self)
RCV000906900.3, RCV001433639.3, 94372945, 507196679, 1488160, 35217368, 112449425, 251481041, 3251588774, ss2216832904, ss3978839367, ss5035935379, ss5303128633, ss5496185242, ss5606847010, ss5778612321, ss5913954357 NC_000017.11:42223542:G:A NC_000017.11:42223542:G:A (self)
ss3214536, ss74806047, ss74904778, ss119426538, ss160526821, ss173240522, ss244289077 NT_010783.15:5649712:G:A NC_000017.11:42223542:G:A (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 rs2277619

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