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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.

rs120963

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:23596749 (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 / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.281000 (74378/264690, TOPMED)
G=0.274927 (38492/140008, GnomAD)
G=0.24836 (9763/39310, ALFA) (+ 19 more)
G=0.32370 (9147/28258, 14KJPN)
G=0.32416 (5433/16760, 8.3KJPN)
G=0.3270 (2094/6404, 1000G_30x)
G=0.3249 (1627/5008, 1000G)
G=0.2147 (962/4480, Estonian)
G=0.1762 (679/3854, ALSPAC)
G=0.1826 (677/3708, TWINSUK)
G=0.3392 (994/2930, KOREAN)
G=0.3488 (660/1892, HapMap)
G=0.3422 (627/1832, Korea1K)
G=0.2276 (254/1116, Daghestan)
G=0.204 (204/998, GoNL)
G=0.324 (203/626, Chileans)
G=0.145 (87/600, NorthernSweden)
A=0.386 (115/298, SGDP_PRJ)
G=0.292 (63/216, Qatari)
G=0.257 (55/214, Vietnamese)
G=0.25 (10/40, GENOME_DK)
A=0.42 (11/26, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NDUFAB1 : 2KB Upstream Variant
Publications
8 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 39310 A=0.75164 G=0.24836
European Sub 23678 A=0.80911 G=0.19089
African Sub 7898 A=0.5713 G=0.4287
African Others Sub 268 A=0.534 G=0.466
African American Sub 7630 A=0.5726 G=0.4274
Asian Sub 200 A=0.695 G=0.305
East Asian Sub 134 A=0.716 G=0.284
Other Asian Sub 66 A=0.65 G=0.35
Latin American 1 Sub 626 A=0.780 G=0.220
Latin American 2 Sub 2824 A=0.7433 G=0.2567
South Asian Sub 158 A=0.741 G=0.259
Other Sub 3926 A=0.7728 G=0.2272


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=0.719000 G=0.281000
gnomAD - Genomes Global Study-wide 140008 A=0.725073 G=0.274927
gnomAD - Genomes European Sub 75856 A=0.80032 G=0.19968
gnomAD - Genomes African Sub 41916 A=0.57682 G=0.42318
gnomAD - Genomes American Sub 13638 A=0.75260 G=0.24740
gnomAD - Genomes Ashkenazi Jewish Sub 3320 A=0.7765 G=0.2235
gnomAD - Genomes East Asian Sub 3130 A=0.6962 G=0.3038
gnomAD - Genomes Other Sub 2148 A=0.7486 G=0.2514
Allele Frequency Aggregator Total Global 39310 A=0.75164 G=0.24836
Allele Frequency Aggregator European Sub 23678 A=0.80911 G=0.19089
Allele Frequency Aggregator African Sub 7898 A=0.5713 G=0.4287
Allele Frequency Aggregator Other Sub 3926 A=0.7728 G=0.2272
Allele Frequency Aggregator Latin American 2 Sub 2824 A=0.7433 G=0.2567
Allele Frequency Aggregator Latin American 1 Sub 626 A=0.780 G=0.220
Allele Frequency Aggregator Asian Sub 200 A=0.695 G=0.305
Allele Frequency Aggregator South Asian Sub 158 A=0.741 G=0.259
14KJPN JAPANESE Study-wide 28258 A=0.67630 G=0.32370
8.3KJPN JAPANESE Study-wide 16760 A=0.67584 G=0.32416
1000Genomes_30x Global Study-wide 6404 A=0.6730 G=0.3270
1000Genomes_30x African Sub 1786 A=0.5112 G=0.4888
1000Genomes_30x Europe Sub 1266 A=0.8207 G=0.1793
1000Genomes_30x South Asian Sub 1202 A=0.6889 G=0.3111
1000Genomes_30x East Asian Sub 1170 A=0.6940 G=0.3060
1000Genomes_30x American Sub 980 A=0.733 G=0.267
1000Genomes Global Study-wide 5008 A=0.6751 G=0.3249
1000Genomes African Sub 1322 A=0.5174 G=0.4826
1000Genomes East Asian Sub 1008 A=0.6974 G=0.3026
1000Genomes Europe Sub 1006 A=0.8131 G=0.1869
1000Genomes South Asian Sub 978 A=0.687 G=0.313
1000Genomes American Sub 694 A=0.726 G=0.274
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.7853 G=0.2147
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.8238 G=0.1762
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.8174 G=0.1826
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.6608 G=0.3392, T=0.0000
HapMap Global Study-wide 1892 A=0.6512 G=0.3488
HapMap American Sub 770 A=0.748 G=0.252
HapMap African Sub 692 A=0.475 G=0.525
HapMap Asian Sub 254 A=0.693 G=0.307
HapMap Europe Sub 176 A=0.858 G=0.142
Korean Genome Project KOREAN Study-wide 1832 A=0.6578 G=0.3422
Genome-wide autozygosity in Daghestan Global Study-wide 1116 A=0.7724 G=0.2276
Genome-wide autozygosity in Daghestan Daghestan Sub 618 A=0.772 G=0.228
Genome-wide autozygosity in Daghestan Near_East Sub 144 A=0.812 G=0.188
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.738 G=0.262
Genome-wide autozygosity in Daghestan Europe Sub 106 A=0.821 G=0.179
Genome-wide autozygosity in Daghestan South Asian Sub 92 A=0.72 G=0.28
Genome-wide autozygosity in Daghestan Caucasus Sub 34 A=0.74 G=0.26
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.796 G=0.204
Chileans Chilean Study-wide 626 A=0.676 G=0.324
Northern Sweden ACPOP Study-wide 600 A=0.855 G=0.145
SGDP_PRJ Global Study-wide 298 A=0.386 G=0.614
Qatari Global Study-wide 216 A=0.708 G=0.292
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.743 G=0.257
The Danish reference pan genome Danish Study-wide 40 A=0.75 G=0.25
Siberian Global Study-wide 26 A=0.42 G=0.58
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 16 NC_000016.10:g.23596749A>G
GRCh38.p14 chr 16 NC_000016.10:g.23596749A>T
GRCh37.p13 chr 16 NC_000016.9:g.23608070A>G
GRCh37.p13 chr 16 NC_000016.9:g.23608070A>T
Gene: NDUFAB1, NADH:ubiquinone oxidoreductase subunit AB1 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
NDUFAB1 transcript NM_005003.3:c. N/A Upstream Transcript Variant
NDUFAB1 transcript variant X1 XM_011545856.3:c. N/A 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 A= G T
GRCh38.p14 chr 16 NC_000016.10:g.23596749= NC_000016.10:g.23596749A>G NC_000016.10:g.23596749A>T
GRCh37.p13 chr 16 NC_000016.9:g.23608070= NC_000016.9:g.23608070A>G NC_000016.9:g.23608070A>T
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#.

75 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss128516 Oct 05, 2000 (87)
2 SC_JCM ss632035 Jul 16, 2000 (80)
3 KWOK ss912780 Oct 13, 2000 (87)
4 KWOK ss1012793 Oct 13, 2000 (87)
5 BCM_SSAHASNP ss10819195 Jul 11, 2003 (116)
6 ABI ss40677503 Mar 14, 2006 (126)
7 AFFY ss66118268 Nov 30, 2006 (127)
8 AFFY ss76108012 Dec 08, 2007 (130)
9 KRIBB_YJKIM ss81406208 Dec 15, 2007 (130)
10 BCMHGSC_JDW ss90348709 Mar 24, 2008 (129)
11 HUMANGENOME_JCVI ss96674910 Feb 06, 2009 (130)
12 BGI ss103286647 Dec 01, 2009 (131)
13 ILLUMINA-UK ss118220963 Dec 01, 2009 (131)
14 ENSEMBL ss136634121 Dec 01, 2009 (131)
15 ENSEMBL ss136773347 Dec 01, 2009 (131)
16 ILLUMINA ss160033103 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss168023914 Jul 04, 2010 (132)
18 AFFY ss172531402 Jun 24, 2010 (142)
19 BUSHMAN ss201554600 Jul 04, 2010 (132)
20 BCM-HGSC-SUB ss207578266 Jul 04, 2010 (132)
21 1000GENOMES ss227190705 Jul 14, 2010 (132)
22 1000GENOMES ss236988115 Jul 15, 2010 (132)
23 1000GENOMES ss243335790 Jul 15, 2010 (132)
24 BL ss255584073 May 09, 2011 (134)
25 GMI ss282475697 May 04, 2012 (137)
26 PJP ss291936214 May 09, 2011 (134)
27 ILLUMINA ss480198160 Sep 08, 2015 (146)
28 TISHKOFF ss564840873 Apr 25, 2013 (138)
29 SSMP ss660592621 Apr 25, 2013 (138)
30 EVA-GONL ss992382494 Aug 21, 2014 (142)
31 JMKIDD_LAB ss1080555024 Aug 21, 2014 (142)
32 1000GENOMES ss1355778280 Aug 21, 2014 (142)
33 HAMMER_LAB ss1397713021 Sep 08, 2015 (146)
34 DDI ss1427808147 Apr 01, 2015 (144)
35 EVA_GENOME_DK ss1577875653 Apr 01, 2015 (144)
36 EVA_UK10K_ALSPAC ss1634205083 Apr 01, 2015 (144)
37 EVA_UK10K_TWINSUK ss1677199116 Apr 01, 2015 (144)
38 EVA_DECODE ss1696416828 Apr 01, 2015 (144)
39 EVA_SVP ss1713532593 Apr 01, 2015 (144)
40 HAMMER_LAB ss1808466003 Sep 08, 2015 (146)
41 WEILL_CORNELL_DGM ss1935805411 Feb 12, 2016 (147)
42 GENOMED ss1968241051 Jul 19, 2016 (147)
43 JJLAB ss2028689737 Sep 14, 2016 (149)
44 USC_VALOUEV ss2157100909 Dec 20, 2016 (150)
45 HUMAN_LONGEVITY ss2211353256 Dec 20, 2016 (150)
46 SYSTEMSBIOZJU ss2628837944 Nov 08, 2017 (151)
47 ILLUMINA ss2635063105 Nov 08, 2017 (151)
48 GRF ss2701606561 Nov 08, 2017 (151)
49 GNOMAD ss2941509832 Nov 08, 2017 (151)
50 SWEGEN ss3014246165 Nov 08, 2017 (151)
51 CSHL ss3351385070 Nov 08, 2017 (151)
52 ILLUMINA ss3636327416 Oct 12, 2018 (152)
53 URBANLAB ss3650487264 Oct 12, 2018 (152)
54 EGCUT_WGS ss3681333459 Jul 13, 2019 (153)
55 EVA_DECODE ss3699034304 Jul 13, 2019 (153)
56 ACPOP ss3741422280 Jul 13, 2019 (153)
57 EVA ss3753803851 Jul 13, 2019 (153)
58 KHV_HUMAN_GENOMES ss3819098227 Jul 13, 2019 (153)
59 EVA ss3834522167 Apr 27, 2020 (154)
60 SGDP_PRJ ss3884172625 Apr 27, 2020 (154)
61 KRGDB ss3933504957 Apr 27, 2020 (154)
62 KOGIC ss3977295209 Apr 27, 2020 (154)
63 TOPMED ss5011111618 Apr 26, 2021 (155)
64 TOMMO_GENOMICS ss5218931769 Apr 26, 2021 (155)
65 1000G_HIGH_COVERAGE ss5300503261 Oct 16, 2022 (156)
66 HUGCELL_USP ss5493956187 Oct 16, 2022 (156)
67 EVA ss5511588943 Oct 16, 2022 (156)
68 1000G_HIGH_COVERAGE ss5602907516 Oct 16, 2022 (156)
69 SANFORD_IMAGENETICS ss5658668239 Oct 16, 2022 (156)
70 TOMMO_GENOMICS ss5773559343 Oct 16, 2022 (156)
71 YY_MCH ss5815849967 Oct 16, 2022 (156)
72 EVA ss5846243819 Oct 16, 2022 (156)
73 EVA ss5851530438 Oct 16, 2022 (156)
74 EVA ss5898655064 Oct 16, 2022 (156)
75 EVA ss5950085869 Oct 16, 2022 (156)
76 1000Genomes NC_000016.9 - 23608070 Oct 12, 2018 (152)
77 1000Genomes_30x NC_000016.10 - 23596749 Oct 16, 2022 (156)
78 The Avon Longitudinal Study of Parents and Children NC_000016.9 - 23608070 Oct 12, 2018 (152)
79 Chileans NC_000016.9 - 23608070 Apr 27, 2020 (154)
80 Genome-wide autozygosity in Daghestan NC_000016.8 - 23515571 Apr 27, 2020 (154)
81 Genetic variation in the Estonian population NC_000016.9 - 23608070 Oct 12, 2018 (152)
82 The Danish reference pan genome NC_000016.9 - 23608070 Apr 27, 2020 (154)
83 gnomAD - Genomes NC_000016.10 - 23596749 Apr 26, 2021 (155)
84 Genome of the Netherlands Release 5 NC_000016.9 - 23608070 Apr 27, 2020 (154)
85 HapMap NC_000016.10 - 23596749 Apr 27, 2020 (154)
86 KOREAN population from KRGDB NC_000016.9 - 23608070 Apr 27, 2020 (154)
87 Korean Genome Project NC_000016.10 - 23596749 Apr 27, 2020 (154)
88 Northern Sweden NC_000016.9 - 23608070 Jul 13, 2019 (153)
89 Qatari NC_000016.9 - 23608070 Apr 27, 2020 (154)
90 SGDP_PRJ NC_000016.9 - 23608070 Apr 27, 2020 (154)
91 Siberian NC_000016.9 - 23608070 Apr 27, 2020 (154)
92 8.3KJPN NC_000016.9 - 23608070 Apr 26, 2021 (155)
93 14KJPN NC_000016.10 - 23596749 Oct 16, 2022 (156)
94 TopMed NC_000016.10 - 23596749 Apr 26, 2021 (155)
95 UK 10K study - Twins NC_000016.9 - 23608070 Oct 12, 2018 (152)
96 A Vietnamese Genetic Variation Database NC_000016.9 - 23608070 Jul 13, 2019 (153)
97 ALFA NC_000016.10 - 23596749 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)
rs756846 Oct 18, 2000 (87)
rs1066616 Oct 18, 2000 (87)
rs56573938 May 26, 2008 (130)
rs59300864 Feb 27, 2009 (130)
rs111178874 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
183045, ss66118268, ss76108012, ss90348709, ss118220963, ss160033103, ss168023914, ss172531402, ss201554600, ss207578266, ss255584073, ss282475697, ss291936214, ss1397713021, ss1696416828, ss1713532593, ss2635063105 NC_000016.8:23515570:A:G NC_000016.10:23596748:A:G (self)
68926246, 38259328, 165935, 27071707, 4089666, 17067278, 40682351, 14707145, 17847333, 36189605, 9617263, 76901076, 38259328, 8497968, ss227190705, ss236988115, ss243335790, ss480198160, ss564840873, ss660592621, ss992382494, ss1080555024, ss1355778280, ss1427808147, ss1577875653, ss1634205083, ss1677199116, ss1808466003, ss1935805411, ss1968241051, ss2028689737, ss2157100909, ss2628837944, ss2701606561, ss2941509832, ss3014246165, ss3351385070, ss3636327416, ss3681333459, ss3741422280, ss3753803851, ss3834522167, ss3884172625, ss3933504957, ss5218931769, ss5511588943, ss5658668239, ss5846243819, ss5950085869 NC_000016.9:23608069:A:G NC_000016.10:23596748:A:G (self)
90433451, 485794725, 1366149, 33673210, 107396447, 226657279, 11307631609, ss2211353256, ss3650487264, ss3699034304, ss3819098227, ss3977295209, ss5011111618, ss5300503261, ss5493956187, ss5602907516, ss5773559343, ss5815849967, ss5851530438, ss5898655064 NC_000016.10:23596748:A:G NC_000016.10:23596748:A:G (self)
ss10819195 NT_010393.13:14881287:A:G NC_000016.10:23596748:A:G (self)
ss128516, ss632035, ss912780, ss1012793, ss40677503, ss81406208, ss96674910, ss103286647, ss136634121, ss136773347 NT_010393.16:23548069:A:G NC_000016.10:23596748:A:G (self)
40682351, ss3933504957 NC_000016.9:23608069:A:T NC_000016.10:23596748:A:T (self)
Help

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

8 citations for rs120963
PMID Title Author Year Journal
18794107 Association of common PALB2 polymorphisms with breast cancer risk: a case-control study. Chen P et al. 2008 Clinical cancer research
22332084 Research advances at the Institute for Nutritional Sciences at Shanghai, China. Chen Y et al. 2011 Advances in nutrition (Bethesda, Md.)
23318652 Hereditary breast cancer in the Han Chinese population. Cao W et al. 2013 Journal of epidemiology
26981788 Role of PALB2 Polymorphisms with Regard to Susceptibility to Female Breast Cancer Risk in the Chinese Population. Jiang W et al. 2016 Genetic testing and molecular biomarkers
30362319 Meta-Analysis of Association between PALB2 Polymorphisms and Breast Cancer. Dianatpour A et al. 2018 Asian Pacific journal of cancer prevention
30458447 Association between rs120963, rs152451, rs249935, rs447529, rs8053188, and rs16940342 Polymorphisms in the PALB2 Gene and Breast Cancer Susceptibility: A Meta-Analysis. Wu Y et al. 2018 Oncology research and treatment
32894086 MassARRAY-based single nucleotide polymorphism analysis in breast cancer of north Indian population. Bakshi D et al. 2020 BMC cancer
35333900 Health influenced by genetics: A first comprehensive analysis of breast cancer high and moderate penetrance susceptibility genes in the Tunisian population. Boujemaa M et al. 2022 PloS one
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