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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.

rs3950175

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:163251075 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.431478 (114208/264690, TOPMED)
G=0.422066 (58863/139464, GnomAD)
G=0.40328 (11396/28258, 14KJPN) (+ 15 more)
G=0.40572 (7664/18890, ALFA)
G=0.39958 (6697/16760, 8.3KJPN)
G=0.4258 (2727/6404, 1000G_30x)
G=0.4269 (2138/5008, 1000G)
G=0.3652 (1636/4480, Estonian)
G=0.4118 (1587/3854, ALSPAC)
G=0.3870 (1435/3708, TWINSUK)
G=0.4078 (1195/2930, KOREAN)
G=0.3977 (719/1808, Korea1K)
G=0.408 (245/600, NorthernSweden)
A=0.357 (125/350, SGDP_PRJ)
A=0.495 (107/216, Qatari)
G=0.397 (85/214, Vietnamese)
G=0.42 (16/38, GENOME_DK)
A=0.29 (8/28, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PACRG : 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 A=0.59428 G=0.40572
European Sub 14286 A=0.60801 G=0.39199
African Sub 2946 A=0.5489 G=0.4511
African Others Sub 114 A=0.535 G=0.465
African American Sub 2832 A=0.5494 G=0.4506
Asian Sub 112 A=0.696 G=0.304
East Asian Sub 86 A=0.70 G=0.30
Other Asian Sub 26 A=0.69 G=0.31
Latin American 1 Sub 146 A=0.514 G=0.486
Latin American 2 Sub 610 A=0.526 G=0.474
South Asian Sub 98 A=0.57 G=0.43
Other Sub 692 A=0.568 G=0.432


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 A=0.568522 G=0.431478
gnomAD - Genomes Global Study-wide 139464 A=0.577934 G=0.422066
gnomAD - Genomes European Sub 75592 A=0.60649 G=0.39351
gnomAD - Genomes African Sub 41710 A=0.53728 G=0.46272
gnomAD - Genomes American Sub 13586 A=0.54357 G=0.45643
gnomAD - Genomes Ashkenazi Jewish Sub 3320 A=0.5768 G=0.4232
gnomAD - Genomes East Asian Sub 3116 A=0.5895 G=0.4105
gnomAD - Genomes Other Sub 2140 A=0.5645 G=0.4355
14KJPN JAPANESE Study-wide 28258 A=0.59672 G=0.40328
Allele Frequency Aggregator Total Global 18890 A=0.59428 G=0.40572
Allele Frequency Aggregator European Sub 14286 A=0.60801 G=0.39199
Allele Frequency Aggregator African Sub 2946 A=0.5489 G=0.4511
Allele Frequency Aggregator Other Sub 692 A=0.568 G=0.432
Allele Frequency Aggregator Latin American 2 Sub 610 A=0.526 G=0.474
Allele Frequency Aggregator Latin American 1 Sub 146 A=0.514 G=0.486
Allele Frequency Aggregator Asian Sub 112 A=0.696 G=0.304
Allele Frequency Aggregator South Asian Sub 98 A=0.57 G=0.43
8.3KJPN JAPANESE Study-wide 16760 A=0.60042 G=0.39958
1000Genomes_30x Global Study-wide 6404 A=0.5742 G=0.4258
1000Genomes_30x African Sub 1786 A=0.5230 G=0.4770
1000Genomes_30x Europe Sub 1266 A=0.5924 G=0.4076
1000Genomes_30x South Asian Sub 1202 A=0.6065 G=0.3935
1000Genomes_30x East Asian Sub 1170 A=0.6085 G=0.3915
1000Genomes_30x American Sub 980 A=0.563 G=0.437
1000Genomes Global Study-wide 5008 A=0.5731 G=0.4269
1000Genomes African Sub 1322 A=0.5227 G=0.4773
1000Genomes East Asian Sub 1008 A=0.6022 G=0.3978
1000Genomes Europe Sub 1006 A=0.5865 G=0.4135
1000Genomes South Asian Sub 978 A=0.604 G=0.396
1000Genomes American Sub 694 A=0.563 G=0.437
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.6348 G=0.3652
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.5882 G=0.4118
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.6130 G=0.3870
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.5922 G=0.4078
Korean Genome Project KOREAN Study-wide 1808 A=0.6023 G=0.3977
Northern Sweden ACPOP Study-wide 600 A=0.592 G=0.408
SGDP_PRJ Global Study-wide 350 A=0.357 G=0.643
Qatari Global Study-wide 216 A=0.495 G=0.505
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.603 G=0.397
The Danish reference pan genome Danish Study-wide 38 A=0.58 G=0.42
Siberian Global Study-wide 28 A=0.29 G=0.71
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 6 NC_000006.12:g.163251075A>G
GRCh37.p13 chr 6 NC_000006.11:g.163672107A>G
PACRG RefSeqGene NG_011525.1:g.528944A>G
Gene: PACRG, parkin coregulated (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PACRG transcript variant 2 NM_001080378.2:c.614-6375…

NM_001080378.2:c.614-63752A>G

 		N/A Intron Variant
PACRG transcript variant 3 NM_001080379.2:c.614-6375…

NM_001080379.2:c.614-63752A>G

 		N/A Intron Variant
PACRG transcript variant 1 NM_152410.3:c.614-61704A>G N/A Intron Variant
PACRG transcript variant X9 XM_047418208.1:c.614-6375…

XM_047418208.1:c.614-63752A>G

 		N/A Intron Variant
PACRG transcript variant X13 XM_005266825.6:c. N/A Genic Downstream Transcript Variant
PACRG transcript variant X16 XM_005266826.6:c. N/A Genic Downstream Transcript Variant
PACRG transcript variant X10 XM_006715344.5:c. N/A Genic Downstream Transcript Variant
PACRG transcript variant X15 XM_006715345.5:c. N/A Genic Downstream Transcript Variant
PACRG transcript variant X8 XM_011535461.4:c. N/A Genic Downstream Transcript Variant
PACRG transcript variant X6 XM_011535462.4:c. N/A Genic Downstream Transcript Variant
PACRG transcript variant X14 XM_011535466.2:c. N/A Genic Downstream Transcript Variant
PACRG transcript variant X17 XM_011535468.3:c. N/A Genic Downstream Transcript Variant
PACRG transcript variant X18 XM_011535469.3:c. N/A Genic Downstream Transcript Variant
PACRG transcript variant X19 XM_011535471.3:c. N/A Genic Downstream Transcript Variant
PACRG transcript variant X1 XM_017010275.3:c. N/A Genic Downstream Transcript Variant
PACRG transcript variant X5 XM_017010276.3:c. N/A Genic Downstream Transcript Variant
PACRG transcript variant X2 XM_017010277.3:c. N/A Genic Downstream Transcript Variant
PACRG transcript variant X4 XM_017010278.3:c. N/A Genic Downstream Transcript Variant
PACRG transcript variant X3 XM_017010279.3:c. N/A Genic Downstream Transcript Variant
PACRG transcript variant X7 XM_017010280.3:c. N/A Genic Downstream Transcript Variant
PACRG transcript variant X11 XM_017010281.3:c. N/A Genic Downstream Transcript Variant
PACRG transcript variant X12 XM_017010282.3:c. N/A Genic Downstream 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 A= G
GRCh38.p14 chr 6 NC_000006.12:g.163251075= NC_000006.12:g.163251075A>G
GRCh37.p13 chr 6 NC_000006.11:g.163672107= NC_000006.11:g.163672107A>G
PACRG RefSeqGene NG_011525.1:g.528944= NG_011525.1:g.528944A>G
PACRG transcript variant 2 NM_001080378.1:c.614-63752= NM_001080378.1:c.614-63752A>G
PACRG transcript variant 2 NM_001080378.2:c.614-63752= NM_001080378.2:c.614-63752A>G
PACRG transcript variant 3 NM_001080379.1:c.614-63752= NM_001080379.1:c.614-63752A>G
PACRG transcript variant 3 NM_001080379.2:c.614-63752= NM_001080379.2:c.614-63752A>G
PACRG transcript variant 1 NM_152410.2:c.614-61704= NM_152410.2:c.614-61704A>G
PACRG transcript variant 1 NM_152410.3:c.614-61704= NM_152410.3:c.614-61704A>G
PACRG transcript variant X9 XM_047418208.1:c.614-63752= XM_047418208.1:c.614-63752A>G
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#.

60 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss5235922 Oct 10, 2002 (108)
2 WI_SSAHASNP ss6489390 Feb 20, 2003 (113)
3 WI_SSAHASNP ss11770407 Jul 11, 2003 (116)
4 SC_SNP ss13079144 Dec 05, 2003 (119)
5 ABI ss42681722 Mar 13, 2006 (126)
6 HGSV ss80842942 Dec 15, 2007 (130)
7 HGSV ss84699210 Dec 15, 2007 (130)
8 HGSV ss85932844 Dec 15, 2007 (130)
9 BGI ss104382593 Dec 01, 2009 (131)
10 ILLUMINA-UK ss116807957 Dec 01, 2009 (131)
11 BUSHMAN ss202717064 Jul 04, 2010 (132)
12 BCM-HGSC-SUB ss207640574 Jul 04, 2010 (132)
13 GMI ss279114510 May 04, 2012 (137)
14 GMI ss285545202 Apr 25, 2013 (138)
15 PJP ss293780649 May 09, 2011 (134)
16 1000GENOMES ss333796039 May 09, 2011 (134)
17 SSMP ss654027936 Apr 25, 2013 (138)
18 EVA-GONL ss983754474 Aug 21, 2014 (142)
19 JMKIDD_LAB ss1074226165 Aug 21, 2014 (142)
20 1000GENOMES ss1323236132 Aug 21, 2014 (142)
21 DDI ss1430967299 Apr 01, 2015 (144)
22 EVA_GENOME_DK ss1581994412 Apr 01, 2015 (144)
23 EVA_DECODE ss1593330728 Apr 01, 2015 (144)
24 EVA_UK10K_ALSPAC ss1617217988 Apr 01, 2015 (144)
25 EVA_UK10K_TWINSUK ss1660212021 Apr 01, 2015 (144)
26 WEILL_CORNELL_DGM ss1926995882 Feb 12, 2016 (147)
27 GENOMED ss1970581699 Jul 19, 2016 (147)
28 JJLAB ss2024165331 Sep 14, 2016 (149)
29 USC_VALOUEV ss2152359464 Dec 20, 2016 (150)
30 HUMAN_LONGEVITY ss2290381496 Dec 20, 2016 (150)
31 GRF ss2707999359 Nov 08, 2017 (151)
32 GNOMAD ss2847831916 Nov 08, 2017 (151)
33 SWEGEN ss3000335783 Nov 08, 2017 (151)
34 BIOINF_KMB_FNS_UNIBA ss3025874748 Nov 08, 2017 (151)
35 CSHL ss3347340613 Nov 08, 2017 (151)
36 EGCUT_WGS ss3668275977 Jul 13, 2019 (153)
37 EVA_DECODE ss3718753172 Jul 13, 2019 (153)
38 ACPOP ss3734196342 Jul 13, 2019 (153)
39 EVA ss3765968319 Jul 13, 2019 (153)
40 KHV_HUMAN_GENOMES ss3809132387 Jul 13, 2019 (153)
41 EVA ss3830317728 Apr 26, 2020 (154)
42 EVA ss3838643520 Apr 26, 2020 (154)
43 EVA ss3844093818 Apr 26, 2020 (154)
44 SGDP_PRJ ss3866220822 Apr 26, 2020 (154)
45 KRGDB ss3913214263 Apr 26, 2020 (154)
46 KOGIC ss3960539621 Apr 26, 2020 (154)
47 TOPMED ss4730011662 Apr 26, 2021 (155)
48 TOMMO_GENOMICS ss5181007992 Apr 26, 2021 (155)
49 1000G_HIGH_COVERAGE ss5271197616 Oct 14, 2022 (156)
50 HUGCELL_USP ss5468564483 Oct 14, 2022 (156)
51 EVA ss5508793021 Oct 14, 2022 (156)
52 1000G_HIGH_COVERAGE ss5558557065 Oct 14, 2022 (156)
53 SANFORD_IMAGENETICS ss5641978861 Oct 14, 2022 (156)
54 TOMMO_GENOMICS ss5720202109 Oct 14, 2022 (156)
55 YY_MCH ss5808168149 Oct 14, 2022 (156)
56 EVA ss5843322046 Oct 14, 2022 (156)
57 EVA ss5855684911 Oct 14, 2022 (156)
58 EVA ss5886930838 Oct 14, 2022 (156)
59 EVA ss5971076729 Oct 14, 2022 (156)
60 EVA ss5971076730 Oct 14, 2022 (156)
61 1000Genomes NC_000006.11 - 163672107 Oct 12, 2018 (152)
62 1000Genomes_30x NC_000006.12 - 163251075 Oct 14, 2022 (156)
63 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 163672107 Oct 12, 2018 (152)
64 Genetic variation in the Estonian population NC_000006.11 - 163672107 Oct 12, 2018 (152)
65 The Danish reference pan genome NC_000006.11 - 163672107 Apr 26, 2020 (154)
66 gnomAD - Genomes NC_000006.12 - 163251075 Apr 26, 2021 (155)
67 KOREAN population from KRGDB NC_000006.11 - 163672107 Apr 26, 2020 (154)
68 Korean Genome Project NC_000006.12 - 163251075 Apr 26, 2020 (154)
69 Northern Sweden NC_000006.11 - 163672107 Jul 13, 2019 (153)
70 Qatari NC_000006.11 - 163672107 Apr 26, 2020 (154)
71 SGDP_PRJ NC_000006.11 - 163672107 Apr 26, 2020 (154)
72 Siberian NC_000006.11 - 163672107 Apr 26, 2020 (154)
73 8.3KJPN NC_000006.11 - 163672107 Apr 26, 2021 (155)
74 14KJPN NC_000006.12 - 163251075 Oct 14, 2022 (156)
75 TopMed NC_000006.12 - 163251075 Apr 26, 2021 (155)
76 UK 10K study - Twins NC_000006.11 - 163672107 Oct 12, 2018 (152)
77 A Vietnamese Genetic Variation Database NC_000006.11 - 163672107 Jul 13, 2019 (153)
78 ALFA NC_000006.12 - 163251075 Apr 26, 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).

Associated ID History Updated (Build)
rs4709686 Mar 31, 2003 (113)
rs59685099 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss80842942, ss84699210, ss85932844 NC_000006.9:163642517:A:G NC_000006.12:163251074:A:G (self)
ss116807957, ss202717064, ss207640574, ss279114510, ss285545202, ss293780649, ss1593330728 NC_000006.10:163592096:A:G NC_000006.12:163251074:A:G (self)
35141780, 19601061, 14014225, 8159351, 20391657, 7481207, 9037812, 18237802, 4875818, 38977299, 19601061, 4362196, ss333796039, ss654027936, ss983754474, ss1074226165, ss1323236132, ss1430967299, ss1581994412, ss1617217988, ss1660212021, ss1926995882, ss1970581699, ss2024165331, ss2152359464, ss2707999359, ss2847831916, ss3000335783, ss3347340613, ss3668275977, ss3734196342, ss3765968319, ss3830317728, ss3838643520, ss3866220822, ss3913214263, ss5181007992, ss5508793021, ss5641978861, ss5843322046, ss5971076729, ss5971076730 NC_000006.11:163672106:A:G NC_000006.12:163251074:A:G (self)
46083000, 248029080, 16917622, 54039213, 567389220, 12225960686, ss2290381496, ss3025874748, ss3718753172, ss3809132387, ss3844093818, ss3960539621, ss4730011662, ss5271197616, ss5468564483, ss5558557065, ss5720202109, ss5808168149, ss5855684911, ss5886930838 NC_000006.12:163251074:A:G NC_000006.12:163251074:A:G (self)
ss11770407, ss13079144 NT_007422.12:5959447:A:G NC_000006.12:163251074:A:G (self)
ss5235922, ss6489390, ss42681722, ss104382593 NT_025741.15:67841563:A:G NC_000006.12:163251074:A:G (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 rs3950175

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