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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.

rs11577628

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:162349734 (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=0.066138 (17506/264690, TOPMED)
G=0.089920 (13897/154548, ALFA)
G=0.072282 (10133/140188, GnomAD) (+ 20 more)
G=0.12040 (3402/28256, 14KJPN)
G=0.11987 (2009/16760, 8.3KJPN)
G=0.0781 (500/6404, 1000G_30x)
G=0.0825 (413/5008, 1000G)
G=0.1163 (521/4480, Estonian)
G=0.0921 (355/3854, ALSPAC)
G=0.0852 (316/3708, TWINSUK)
G=0.0983 (288/2930, KOREAN)
G=0.0821 (171/2084, HGDP_Stanford)
G=0.0999 (183/1832, Korea1K)
G=0.0772 (102/1322, HapMap)
G=0.083 (83/998, GoNL)
G=0.056 (35/626, Chileans)
G=0.118 (71/600, NorthernSweden)
G=0.083 (18/216, Qatari)
G=0.056 (12/216, Vietnamese)
A=0.48 (44/92, SGDP_PRJ)
G=0.03 (2/66, Ancient Sardinia)
G=0.12 (5/40, GENOME_DK)
A=0.3 (3/10, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NOS1AP : 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 154548 A=0.910080 G=0.089920
European Sub 130080 A=0.902944 G=0.097056
African Sub 7346 A=0.9786 G=0.0214
African Others Sub 254 A=0.996 G=0.004
African American Sub 7092 A=0.9780 G=0.0220
Asian Sub 678 A=0.926 G=0.074
East Asian Sub 514 A=0.920 G=0.080
Other Asian Sub 164 A=0.945 G=0.055
Latin American 1 Sub 892 A=0.929 G=0.071
Latin American 2 Sub 8462 A=0.9471 G=0.0529
South Asian Sub 196 A=0.883 G=0.117
Other Sub 6894 A=0.9230 G=0.0770


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=0.933862 G=0.066138
Allele Frequency Aggregator Total Global 154548 A=0.910080 G=0.089920
Allele Frequency Aggregator European Sub 130080 A=0.902944 G=0.097056
Allele Frequency Aggregator Latin American 2 Sub 8462 A=0.9471 G=0.0529
Allele Frequency Aggregator African Sub 7346 A=0.9786 G=0.0214
Allele Frequency Aggregator Other Sub 6894 A=0.9230 G=0.0770
Allele Frequency Aggregator Latin American 1 Sub 892 A=0.929 G=0.071
Allele Frequency Aggregator Asian Sub 678 A=0.926 G=0.074
Allele Frequency Aggregator South Asian Sub 196 A=0.883 G=0.117
gnomAD - Genomes Global Study-wide 140188 A=0.927718 G=0.072282
gnomAD - Genomes European Sub 75898 A=0.89814 G=0.10186
gnomAD - Genomes African Sub 42026 A=0.97858 G=0.02142
gnomAD - Genomes American Sub 13652 A=0.93869 G=0.06131
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.9073 G=0.0927
gnomAD - Genomes East Asian Sub 3134 A=0.9365 G=0.0635
gnomAD - Genomes Other Sub 2154 A=0.9266 G=0.0734
14KJPN JAPANESE Study-wide 28256 A=0.87960 G=0.12040
8.3KJPN JAPANESE Study-wide 16760 A=0.88013 G=0.11987
1000Genomes_30x Global Study-wide 6404 A=0.9219 G=0.0781
1000Genomes_30x African Sub 1786 A=0.9938 G=0.0062
1000Genomes_30x Europe Sub 1266 A=0.9084 G=0.0916
1000Genomes_30x South Asian Sub 1202 A=0.8228 G=0.1772
1000Genomes_30x East Asian Sub 1170 A=0.9154 G=0.0846
1000Genomes_30x American Sub 980 A=0.938 G=0.062
1000Genomes Global Study-wide 5008 A=0.9175 G=0.0825
1000Genomes African Sub 1322 A=0.9932 G=0.0068
1000Genomes East Asian Sub 1008 A=0.9147 G=0.0853
1000Genomes Europe Sub 1006 A=0.9056 G=0.0944
1000Genomes South Asian Sub 978 A=0.817 G=0.183
1000Genomes American Sub 694 A=0.937 G=0.063
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.8837 G=0.1163
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.9079 G=0.0921
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9148 G=0.0852
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.9017 G=0.0983
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.9179 G=0.0821
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.928 G=0.072
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.860 G=0.140
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.911 G=0.089
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.869 G=0.131
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.996 G=0.004
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.977 G=0.023
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=1.00 G=0.00
Korean Genome Project KOREAN Study-wide 1832 A=0.9001 G=0.0999
HapMap Global Study-wide 1322 A=0.9228 G=0.0772
HapMap American Sub 668 A=0.912 G=0.088
HapMap Asian Sub 252 A=0.933 G=0.067
HapMap African Sub 226 A=0.996 G=0.004
HapMap Europe Sub 176 A=0.858 G=0.142
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.917 G=0.083
Chileans Chilean Study-wide 626 A=0.944 G=0.056
Northern Sweden ACPOP Study-wide 600 A=0.882 G=0.118
Qatari Global Study-wide 216 A=0.917 G=0.083
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.944 G=0.056
SGDP_PRJ Global Study-wide 92 A=0.48 G=0.52
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 66 A=0.97 G=0.03
The Danish reference pan genome Danish Study-wide 40 A=0.88 G=0.12
Siberian Global Study-wide 10 A=0.3 G=0.7
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.162349734A>G
GRCh37.p13 chr 1 NC_000001.10:g.162319524A>G
NOS1AP RefSeqGene NG_015979.2:g.284944A>G
Gene: NOS1AP, nitric oxide synthase 1 adaptor protein (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NOS1AP transcript variant 3 NM_001164757.2:c.581-5453…

NM_001164757.2:c.581-5453A>G

 		N/A Intron Variant
NOS1AP transcript variant 1 NM_014697.3:c.596-5453A>G N/A Intron Variant
NOS1AP transcript variant 2 NM_001126060.2: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 A= G
GRCh38.p14 chr 1 NC_000001.11:g.162349734= NC_000001.11:g.162349734A>G
GRCh37.p13 chr 1 NC_000001.10:g.162319524= NC_000001.10:g.162319524A>G
NOS1AP RefSeqGene NG_015979.2:g.284944= NG_015979.2:g.284944A>G
NOS1AP transcript variant 3 NM_001164757.1:c.581-5453= NM_001164757.1:c.581-5453A>G
NOS1AP transcript variant 3 NM_001164757.2:c.581-5453= NM_001164757.2:c.581-5453A>G
NOS1AP transcript variant 1 NM_014697.2:c.596-5453= NM_014697.2:c.596-5453A>G
NOS1AP transcript variant 1 NM_014697.3:c.596-5453= NM_014697.3:c.596-5453A>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#.

91 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss16392166 Feb 28, 2004 (120)
2 ILLUMINA ss66932185 Dec 03, 2006 (127)
3 ILLUMINA ss67092176 Dec 03, 2006 (127)
4 ILLUMINA ss68106452 Dec 12, 2006 (127)
5 ILLUMINA ss70530063 May 24, 2008 (130)
6 ILLUMINA ss71060630 May 16, 2007 (127)
7 ILLUMINA ss75645275 Dec 06, 2007 (129)
8 AFFY ss76540782 Dec 06, 2007 (129)
9 KRIBB_YJKIM ss85099944 Dec 15, 2007 (130)
10 BGI ss102790455 Dec 01, 2009 (131)
11 ILLUMINA ss159982116 Dec 01, 2009 (131)
12 ILLUMINA ss171306272 Jul 04, 2010 (132)
13 1000GENOMES ss230752171 Jul 14, 2010 (132)
14 1000GENOMES ss238395906 Jul 15, 2010 (132)
15 ILLUMINA ss244273245 Jul 04, 2010 (132)
16 GMI ss276072737 May 04, 2012 (137)
17 ILLUMINA ss410768869 Sep 17, 2011 (135)
18 ILLUMINA ss479530660 May 04, 2012 (137)
19 ILLUMINA ss479534484 May 04, 2012 (137)
20 ILLUMINA ss479994287 Sep 08, 2015 (146)
21 ILLUMINA ss484564279 May 04, 2012 (137)
22 ILLUMINA ss536699703 Sep 08, 2015 (146)
23 SSMP ss648450354 Apr 25, 2013 (138)
24 ILLUMINA ss778384234 Aug 21, 2014 (142)
25 ILLUMINA ss782728852 Aug 21, 2014 (142)
26 ILLUMINA ss783696107 Aug 21, 2014 (142)
27 ILLUMINA ss831980570 Apr 01, 2015 (144)
28 ILLUMINA ss833839246 Aug 21, 2014 (142)
29 EVA-GONL ss975739341 Aug 21, 2014 (142)
30 JMKIDD_LAB ss1068309456 Aug 21, 2014 (142)
31 1000GENOMES ss1293141679 Aug 21, 2014 (142)
32 EVA_GENOME_DK ss1574428944 Apr 01, 2015 (144)
33 EVA_DECODE ss1585122508 Apr 01, 2015 (144)
34 EVA_UK10K_ALSPAC ss1601328035 Apr 01, 2015 (144)
35 EVA_UK10K_TWINSUK ss1644322068 Apr 01, 2015 (144)
36 EVA_SVP ss1712375307 Apr 01, 2015 (144)
37 ILLUMINA ss1751877211 Sep 08, 2015 (146)
38 WEILL_CORNELL_DGM ss1918975774 Feb 12, 2016 (147)
39 JJLAB ss2020001943 Sep 14, 2016 (149)
40 USC_VALOUEV ss2148028738 Dec 20, 2016 (150)
41 HUMAN_LONGEVITY ss2166970317 Dec 20, 2016 (150)
42 SYSTEMSBIOZJU ss2624509920 Nov 08, 2017 (151)
43 ILLUMINA ss2632583398 Nov 08, 2017 (151)
44 GRF ss2698004395 Nov 08, 2017 (151)
45 GNOMAD ss2761936597 Nov 08, 2017 (151)
46 SWEGEN ss2987841977 Nov 08, 2017 (151)
47 BIOINF_KMB_FNS_UNIBA ss3023758201 Nov 08, 2017 (151)
48 CSHL ss3343735484 Nov 08, 2017 (151)
49 ILLUMINA ss3626223476 Oct 11, 2018 (152)
50 ILLUMINA ss3630615785 Oct 11, 2018 (152)
51 ILLUMINA ss3632912166 Oct 11, 2018 (152)
52 ILLUMINA ss3633607630 Oct 11, 2018 (152)
53 ILLUMINA ss3634354504 Oct 11, 2018 (152)
54 ILLUMINA ss3635301026 Oct 11, 2018 (152)
55 ILLUMINA ss3636033252 Oct 11, 2018 (152)
56 ILLUMINA ss3637051524 Oct 11, 2018 (152)
57 ILLUMINA ss3637791199 Oct 11, 2018 (152)
58 ILLUMINA ss3638912082 Oct 11, 2018 (152)
59 ILLUMINA ss3639768103 Oct 11, 2018 (152)
60 ILLUMINA ss3640061858 Oct 11, 2018 (152)
61 ILLUMINA ss3642800103 Oct 11, 2018 (152)
62 ILLUMINA ss3643821472 Oct 11, 2018 (152)
63 EGCUT_WGS ss3655781217 Jul 12, 2019 (153)
64 EVA_DECODE ss3687889274 Jul 12, 2019 (153)
65 ACPOP ss3727532398 Jul 12, 2019 (153)
66 ILLUMINA ss3744655394 Jul 12, 2019 (153)
67 EVA ss3746873625 Jul 12, 2019 (153)
68 ILLUMINA ss3772156467 Jul 12, 2019 (153)
69 KHV_HUMAN_GENOMES ss3799873845 Jul 12, 2019 (153)
70 EVA ss3826452543 Apr 25, 2020 (154)
71 HGDP ss3847351277 Apr 25, 2020 (154)
72 SGDP_PRJ ss3850117792 Apr 25, 2020 (154)
73 KRGDB ss3895344061 Apr 25, 2020 (154)
74 KOGIC ss3945765245 Apr 25, 2020 (154)
75 EVA ss3984828992 Apr 25, 2021 (155)
76 EVA ss4016941310 Apr 25, 2021 (155)
77 TOPMED ss4470205831 Apr 25, 2021 (155)
78 TOMMO_GENOMICS ss5146735124 Apr 25, 2021 (155)
79 1000G_HIGH_COVERAGE ss5244480272 Oct 12, 2022 (156)
80 EVA ss5314655258 Oct 12, 2022 (156)
81 EVA ss5322390628 Oct 12, 2022 (156)
82 HUGCELL_USP ss5445047684 Oct 12, 2022 (156)
83 1000G_HIGH_COVERAGE ss5517902036 Oct 12, 2022 (156)
84 SANFORD_IMAGENETICS ss5624219714 Oct 12, 2022 (156)
85 SANFORD_IMAGENETICS ss5626697660 Oct 12, 2022 (156)
86 TOMMO_GENOMICS ss5674007698 Oct 12, 2022 (156)
87 EVA ss5799500555 Oct 12, 2022 (156)
88 YY_MCH ss5801307233 Oct 12, 2022 (156)
89 EVA ss5832740113 Oct 12, 2022 (156)
90 EVA ss5910457625 Oct 12, 2022 (156)
91 EVA ss5938494706 Oct 12, 2022 (156)
92 1000Genomes NC_000001.10 - 162319524 Oct 11, 2018 (152)
93 1000Genomes_30x NC_000001.11 - 162349734 Oct 12, 2022 (156)
94 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 162319524 Oct 11, 2018 (152)
95 Chileans NC_000001.10 - 162319524 Apr 25, 2020 (154)
96 Genetic variation in the Estonian population NC_000001.10 - 162319524 Oct 11, 2018 (152)
97 The Danish reference pan genome NC_000001.10 - 162319524 Apr 25, 2020 (154)
98 gnomAD - Genomes NC_000001.11 - 162349734 Apr 25, 2021 (155)
99 Genome of the Netherlands Release 5 NC_000001.10 - 162319524 Apr 25, 2020 (154)
100 HGDP-CEPH-db Supplement 1 NC_000001.9 - 160586148 Apr 25, 2020 (154)
101 HapMap NC_000001.11 - 162349734 Apr 25, 2020 (154)
102 KOREAN population from KRGDB NC_000001.10 - 162319524 Apr 25, 2020 (154)
103 Korean Genome Project NC_000001.11 - 162349734 Apr 25, 2020 (154)
104 Northern Sweden NC_000001.10 - 162319524 Jul 12, 2019 (153)
105 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 162319524 Apr 25, 2021 (155)
106 Qatari NC_000001.10 - 162319524 Apr 25, 2020 (154)
107 SGDP_PRJ NC_000001.10 - 162319524 Apr 25, 2020 (154)
108 Siberian NC_000001.10 - 162319524 Apr 25, 2020 (154)
109 8.3KJPN NC_000001.10 - 162319524 Apr 25, 2021 (155)
110 14KJPN NC_000001.11 - 162349734 Oct 12, 2022 (156)
111 TopMed NC_000001.11 - 162349734 Apr 25, 2021 (155)
112 UK 10K study - Twins NC_000001.10 - 162319524 Oct 11, 2018 (152)
113 A Vietnamese Genetic Variation Database NC_000001.10 - 162319524 Jul 12, 2019 (153)
114 ALFA NC_000001.11 - 162349734 Apr 25, 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)
rs58347688 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3638912082, ss3639768103, ss3643821472 NC_000001.8:159051181:A:G NC_000001.11:162349733:A:G (self)
29169, ss159982116, ss244273245, ss276072737, ss479530660, ss1585122508, ss1712375307, ss3642800103, ss3847351277 NC_000001.9:160586147:A:G NC_000001.11:162349733:A:G (self)
3940722, 2146163, 22366, 1519465, 1729962, 932767, 2521455, 817263, 54919, 1017704, 2134772, 545092, 4704431, 2146163, 459686, ss230752171, ss238395906, ss479534484, ss479994287, ss484564279, ss536699703, ss648450354, ss778384234, ss782728852, ss783696107, ss831980570, ss833839246, ss975739341, ss1068309456, ss1293141679, ss1574428944, ss1601328035, ss1644322068, ss1751877211, ss1918975774, ss2020001943, ss2148028738, ss2624509920, ss2632583398, ss2698004395, ss2761936597, ss2987841977, ss3343735484, ss3626223476, ss3630615785, ss3632912166, ss3633607630, ss3634354504, ss3635301026, ss3636033252, ss3637051524, ss3637791199, ss3640061858, ss3655781217, ss3727532398, ss3744655394, ss3746873625, ss3772156467, ss3826452543, ss3850117792, ss3895344061, ss3984828992, ss4016941310, ss5146735124, ss5314655258, ss5322390628, ss5624219714, ss5626697660, ss5799500555, ss5832740113, ss5938494706 NC_000001.10:162319523:A:G NC_000001.11:162349733:A:G (self)
5427971, 28625852, 187688, 2143246, 7844802, 33812166, 9376000988, ss2166970317, ss3023758201, ss3687889274, ss3799873845, ss3945765245, ss4470205831, ss5244480272, ss5445047684, ss5517902036, ss5674007698, ss5801307233, ss5910457625 NC_000001.11:162349733:A:G NC_000001.11:162349733:A:G (self)
ss66932185, ss67092176, ss68106452, ss70530063, ss71060630, ss75645275, ss76540782, ss85099944, ss102790455, ss171306272, ss410768869 NT_004487.19:13808165:A:G NC_000001.11:162349733:A:G (self)
ss16392166 NT_004668.16:824995:A:G NC_000001.11:162349733: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 rs11577628

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