Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs9550377

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr13:28527544 (GRCh38.p13) 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
C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.118887 (35677/300092, ALFA)
T=0.102218 (27056/264690, TOPMED)
T=0.113102 (15841/140060, GnomAD) (+ 21 more)
T=0.11531 (9074/78690, PAGE_STUDY)
T=0.29081 (4874/16760, 8.3KJPN)
T=0.1512 (757/5008, 1000G)
T=0.1471 (659/4480, Estonian)
T=0.1235 (476/3854, ALSPAC)
T=0.1160 (430/3708, TWINSUK)
T=0.2751 (806/2930, KOREAN)
T=0.1377 (287/2084, HGDP_Stanford)
T=0.1226 (232/1892, HapMap)
T=0.2915 (534/1832, Korea1K)
T=0.104 (104/998, GoNL)
T=0.288 (227/788, PRJEB37584)
T=0.101 (63/626, Chileans)
T=0.178 (107/600, NorthernSweden)
T=0.097 (21/216, Qatari)
T=0.420 (89/212, Vietnamese)
C=0.445 (73/164, SGDP_PRJ)
T=0.12 (6/50, Ancient Sardinia)
T=0.15 (6/40, GENOME_DK)
C=0.50 (8/16, Siberian)
T=0.50 (8/16, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 13 NC_000013.11:g.28527544C>G
GRCh38.p13 chr 13 NC_000013.11:g.28527544C>T
GRCh37.p13 chr 13 NC_000013.10:g.29101681C>G
GRCh37.p13 chr 13 NC_000013.10:g.29101681C>T
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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 300092 C=0.881113 T=0.118887
European Sub 261570 C=0.881967 T=0.118033
African Sub 9050 C=0.9378 T=0.0622
African Others Sub 328 C=0.966 T=0.034
African American Sub 8722 C=0.9367 T=0.0633
Asian Sub 3962 C=0.6921 T=0.3079
East Asian Sub 3190 C=0.7013 T=0.2987
Other Asian Sub 772 C=0.654 T=0.346
Latin American 1 Sub 1280 C=0.9062 T=0.0938
Latin American 2 Sub 9364 C=0.9051 T=0.0949
South Asian Sub 5236 C=0.8468 T=0.1532
Other Sub 9630 C=0.8745 T=0.1255


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
Allele Frequency Aggregator Total Global 300092 C=0.881113 T=0.118887
Allele Frequency Aggregator European Sub 261570 C=0.881967 T=0.118033
Allele Frequency Aggregator Other Sub 9630 C=0.8745 T=0.1255
Allele Frequency Aggregator Latin American 2 Sub 9364 C=0.9051 T=0.0949
Allele Frequency Aggregator African Sub 9050 C=0.9378 T=0.0622
Allele Frequency Aggregator South Asian Sub 5236 C=0.8468 T=0.1532
Allele Frequency Aggregator Asian Sub 3962 C=0.6921 T=0.3079
Allele Frequency Aggregator Latin American 1 Sub 1280 C=0.9062 T=0.0938
TopMed Global Study-wide 264690 C=0.897782 T=0.102218
gnomAD - Genomes Global Study-wide 140060 C=0.886898 T=0.113102
gnomAD - Genomes European Sub 75872 C=0.86194 T=0.13806
gnomAD - Genomes African Sub 41974 C=0.93963 T=0.06037
gnomAD - Genomes American Sub 13632 C=0.89833 T=0.10167
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.9516 T=0.0484
gnomAD - Genomes East Asian Sub 3106 C=0.6645 T=0.3355
gnomAD - Genomes Other Sub 2152 C=0.8871 T=0.1129
The PAGE Study Global Study-wide 78690 C=0.88469 T=0.11531
The PAGE Study AfricanAmerican Sub 32514 C=0.93713 T=0.06287
The PAGE Study Mexican Sub 10810 C=0.91887 T=0.08113
The PAGE Study Asian Sub 8316 C=0.7006 T=0.2994
The PAGE Study PuertoRican Sub 7916 C=0.9271 T=0.0729
The PAGE Study NativeHawaiian Sub 4530 C=0.6307 T=0.3693
The PAGE Study Cuban Sub 4228 C=0.9101 T=0.0899
The PAGE Study Dominican Sub 3828 C=0.9133 T=0.0867
The PAGE Study CentralAmerican Sub 2450 C=0.8951 T=0.1049
The PAGE Study SouthAmerican Sub 1982 C=0.9137 T=0.0863
The PAGE Study NativeAmerican Sub 1260 C=0.8984 T=0.1016
The PAGE Study SouthAsian Sub 856 C=0.831 T=0.169
8.3KJPN JAPANESE Study-wide 16760 C=0.70919 T=0.29081
1000Genomes Global Study-wide 5008 C=0.8488 T=0.1512
1000Genomes African Sub 1322 C=0.9569 T=0.0431
1000Genomes East Asian Sub 1008 C=0.6518 T=0.3482
1000Genomes Europe Sub 1006 C=0.8748 T=0.1252
1000Genomes South Asian Sub 978 C=0.829 T=0.171
1000Genomes American Sub 694 C=0.919 T=0.081
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.8529 T=0.1471
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.8765 T=0.1235
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.8840 T=0.1160
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.7249 G=0.0000, T=0.2751
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.8623 T=0.1377
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.772 T=0.228
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.809 T=0.191
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.897 T=0.103
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.903 T=0.097
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.967 T=0.033
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.944 T=0.056
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.81 T=0.19
HapMap Global Study-wide 1892 C=0.8774 T=0.1226
HapMap American Sub 770 C=0.835 T=0.165
HapMap African Sub 692 C=0.974 T=0.026
HapMap Asian Sub 254 C=0.709 T=0.291
HapMap Europe Sub 176 C=0.926 T=0.074
Korean Genome Project KOREAN Study-wide 1832 C=0.7085 T=0.2915
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.896 T=0.104
CNV burdens in cranial meningiomas Global Study-wide 788 C=0.712 T=0.288
CNV burdens in cranial meningiomas CRM Sub 788 C=0.712 T=0.288
Chileans Chilean Study-wide 626 C=0.899 T=0.101
Northern Sweden ACPOP Study-wide 600 C=0.822 T=0.178
Qatari Global Study-wide 216 C=0.903 T=0.097
A Vietnamese Genetic Variation Database Global Study-wide 212 C=0.580 T=0.420
SGDP_PRJ Global Study-wide 164 C=0.445 T=0.555
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 50 C=0.88 T=0.12
The Danish reference pan genome Danish Study-wide 40 C=0.85 T=0.15
Siberian Global Study-wide 16 C=0.50 T=0.50
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 C= G T
GRCh38.p13 chr 13 NC_000013.11:g.28527544= NC_000013.11:g.28527544C>G NC_000013.11:g.28527544C>T
GRCh37.p13 chr 13 NC_000013.10:g.29101681= NC_000013.10:g.29101681C>G NC_000013.10:g.29101681C>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#.

99 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss13254263 Dec 05, 2003 (119)
2 ILLUMINA ss67929917 Dec 02, 2006 (127)
3 ILLUMINA ss68050280 Dec 02, 2006 (127)
4 ILLUMINA ss68306338 Dec 12, 2006 (127)
5 PERLEGEN ss69129393 May 18, 2007 (127)
6 ILLUMINA ss71614959 May 18, 2007 (127)
7 ILLUMINA ss75437621 Dec 06, 2007 (129)
8 AFFY ss76567231 Dec 06, 2007 (129)
9 KRIBB_YJKIM ss84834834 Dec 14, 2007 (130)
10 ILLUMINA ss98271489 May 23, 2008 (130)
11 1000GENOMES ss112646559 Jan 25, 2009 (130)
12 ILLUMINA ss154500517 Dec 01, 2009 (131)
13 GMI ss154582585 Dec 01, 2009 (131)
14 ILLUMINA ss159674381 Dec 01, 2009 (131)
15 ILLUMINA ss160998116 Dec 01, 2009 (131)
16 ILLUMINA ss174865202 Jul 04, 2010 (132)
17 1000GENOMES ss226098754 Jul 14, 2010 (132)
18 1000GENOMES ss236190191 Jul 15, 2010 (132)
19 1000GENOMES ss242697767 Jul 15, 2010 (132)
20 GMI ss281652708 May 04, 2012 (137)
21 ILLUMINA ss481932104 May 04, 2012 (137)
22 ILLUMINA ss481965249 May 04, 2012 (137)
23 ILLUMINA ss482922647 Sep 08, 2015 (146)
24 ILLUMINA ss485759798 May 04, 2012 (137)
25 ILLUMINA ss537610667 Sep 08, 2015 (146)
26 SSMP ss659166855 Apr 25, 2013 (138)
27 ILLUMINA ss778642496 Sep 08, 2015 (146)
28 ILLUMINA ss783325713 Sep 08, 2015 (146)
29 ILLUMINA ss784277529 Sep 08, 2015 (146)
30 ILLUMINA ss832587383 Sep 08, 2015 (146)
31 ILLUMINA ss833185101 Jul 13, 2019 (153)
32 ILLUMINA ss834100210 Sep 08, 2015 (146)
33 EVA-GONL ss990227587 Aug 21, 2014 (142)
34 JMKIDD_LAB ss1078963047 Aug 21, 2014 (142)
35 1000GENOMES ss1347616818 Aug 21, 2014 (142)
36 DDI ss1427140174 Apr 01, 2015 (144)
37 EVA_GENOME_DK ss1576694434 Apr 01, 2015 (144)
38 EVA_UK10K_ALSPAC ss1629955547 Apr 01, 2015 (144)
39 EVA_DECODE ss1642332231 Apr 01, 2015 (144)
40 EVA_UK10K_TWINSUK ss1672949580 Apr 01, 2015 (144)
41 EVA_SVP ss1713378357 Apr 01, 2015 (144)
42 ILLUMINA ss1752099365 Sep 08, 2015 (146)
43 WEILL_CORNELL_DGM ss1933596518 Feb 12, 2016 (147)
44 ILLUMINA ss1946357272 Feb 12, 2016 (147)
45 ILLUMINA ss1959489669 Feb 12, 2016 (147)
46 GENOMED ss1967743115 Jul 19, 2016 (147)
47 JJLAB ss2027553857 Sep 14, 2016 (149)
48 USC_VALOUEV ss2155918566 Dec 20, 2016 (150)
49 HUMAN_LONGEVITY ss2195096708 Dec 20, 2016 (150)
50 TOPMED ss2359196932 Dec 20, 2016 (150)
51 SYSTEMSBIOZJU ss2628265048 Nov 08, 2017 (151)
52 ILLUMINA ss2633043724 Nov 08, 2017 (151)
53 GRF ss2700290740 Nov 08, 2017 (151)
54 ILLUMINA ss2710778959 Nov 08, 2017 (151)
55 GNOMAD ss2917936209 Nov 08, 2017 (151)
56 SWEGEN ss3010773152 Nov 08, 2017 (151)
57 ILLUMINA ss3021494331 Nov 08, 2017 (151)
58 BIOINF_KMB_FNS_UNIBA ss3027592451 Nov 08, 2017 (151)
59 TOPMED ss3188764287 Nov 08, 2017 (151)
60 CSHL ss3350381544 Nov 08, 2017 (151)
61 ILLUMINA ss3625640563 Oct 12, 2018 (152)
62 ILLUMINA ss3627029470 Oct 12, 2018 (152)
63 ILLUMINA ss3631047972 Oct 12, 2018 (152)
64 ILLUMINA ss3633044100 Oct 12, 2018 (152)
65 ILLUMINA ss3633746215 Oct 12, 2018 (152)
66 ILLUMINA ss3634537325 Oct 12, 2018 (152)
67 ILLUMINA ss3635436437 Oct 12, 2018 (152)
68 ILLUMINA ss3636223891 Oct 12, 2018 (152)
69 ILLUMINA ss3637187492 Oct 12, 2018 (152)
70 ILLUMINA ss3638002128 Oct 12, 2018 (152)
71 ILLUMINA ss3639013981 Oct 12, 2018 (152)
72 ILLUMINA ss3639817034 Oct 12, 2018 (152)
73 ILLUMINA ss3640244656 Oct 12, 2018 (152)
74 ILLUMINA ss3641039523 Oct 12, 2018 (152)
75 ILLUMINA ss3641334402 Oct 12, 2018 (152)
76 ILLUMINA ss3642992661 Oct 12, 2018 (152)
77 ILLUMINA ss3643868131 Oct 12, 2018 (152)
78 ILLUMINA ss3644610300 Oct 12, 2018 (152)
79 ILLUMINA ss3651879677 Oct 12, 2018 (152)
80 EGCUT_WGS ss3678033916 Jul 13, 2019 (153)
81 EVA_DECODE ss3694990205 Jul 13, 2019 (153)
82 ILLUMINA ss3725381433 Jul 13, 2019 (153)
83 ACPOP ss3739611730 Jul 13, 2019 (153)
84 ILLUMINA ss3744109307 Jul 13, 2019 (153)
85 ILLUMINA ss3744838059 Jul 13, 2019 (153)
86 EVA ss3751274867 Jul 13, 2019 (153)
87 PAGE_CC ss3771736537 Jul 13, 2019 (153)
88 ILLUMINA ss3772337174 Jul 13, 2019 (153)
89 KHV_HUMAN_GENOMES ss3816605903 Jul 13, 2019 (153)
90 EVA ss3833466497 Apr 27, 2020 (154)
91 HGDP ss3847473091 Apr 27, 2020 (154)
92 SGDP_PRJ ss3879659278 Apr 27, 2020 (154)
93 KRGDB ss3928480601 Apr 27, 2020 (154)
94 KOGIC ss3973266707 Apr 27, 2020 (154)
95 EVA ss3984677749 Apr 26, 2021 (155)
96 EVA ss3985630857 Apr 26, 2021 (155)
97 EVA ss4017624417 Apr 26, 2021 (155)
98 TOPMED ss4940973609 Apr 26, 2021 (155)
99 TOMMO_GENOMICS ss5209313441 Apr 26, 2021 (155)
100 1000Genomes NC_000013.10 - 29101681 Oct 12, 2018 (152)
101 The Avon Longitudinal Study of Parents and Children NC_000013.10 - 29101681 Oct 12, 2018 (152)
102 Chileans NC_000013.10 - 29101681 Apr 27, 2020 (154)
103 Genetic variation in the Estonian population NC_000013.10 - 29101681 Oct 12, 2018 (152)
104 The Danish reference pan genome NC_000013.10 - 29101681 Apr 27, 2020 (154)
105 gnomAD - Genomes NC_000013.11 - 28527544 Apr 26, 2021 (155)
106 Genome of the Netherlands Release 5 NC_000013.10 - 29101681 Apr 27, 2020 (154)
107 HGDP-CEPH-db Supplement 1 NC_000013.9 - 27999681 Apr 27, 2020 (154)
108 HapMap NC_000013.11 - 28527544 Apr 27, 2020 (154)
109 KOREAN population from KRGDB NC_000013.10 - 29101681 Apr 27, 2020 (154)
110 Korean Genome Project NC_000013.11 - 28527544 Apr 27, 2020 (154)
111 Northern Sweden NC_000013.10 - 29101681 Jul 13, 2019 (153)
112 The PAGE Study NC_000013.11 - 28527544 Jul 13, 2019 (153)
113 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000013.10 - 29101681 Apr 26, 2021 (155)
114 CNV burdens in cranial meningiomas NC_000013.10 - 29101681 Apr 26, 2021 (155)
115 Qatari NC_000013.10 - 29101681 Apr 27, 2020 (154)
116 SGDP_PRJ NC_000013.10 - 29101681 Apr 27, 2020 (154)
117 Siberian NC_000013.10 - 29101681 Apr 27, 2020 (154)
118 8.3KJPN NC_000013.10 - 29101681 Apr 26, 2021 (155)
119 TopMed NC_000013.11 - 28527544 Apr 26, 2021 (155)
120 UK 10K study - Twins NC_000013.10 - 29101681 Oct 12, 2018 (152)
121 A Vietnamese Genetic Variation Database NC_000013.10 - 29101681 Jul 13, 2019 (153)
122 ALFA NC_000013.11 - 28527544 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)
rs57348655 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
35657995, ss3928480601 NC_000013.10:29101680:C:G NC_000013.11:28527543:C:G (self)
150983, ss112646559, ss281652708, ss481932104, ss1642332231, ss1713378357, ss3639013981, ss3639817034, ss3642992661, ss3643868131, ss3847473091 NC_000013.9:27999680:C:T NC_000013.11:28527543:C:T (self)
60465122, 33582207, 116000, 23772164, 3234066, 14984082, 35657995, 12896595, 856784, 227249, 15638448, 31676258, 8434920, 67282748, 33582207, 7449193, ss226098754, ss236190191, ss242697767, ss481965249, ss482922647, ss485759798, ss537610667, ss659166855, ss778642496, ss783325713, ss784277529, ss832587383, ss833185101, ss834100210, ss990227587, ss1078963047, ss1347616818, ss1427140174, ss1576694434, ss1629955547, ss1672949580, ss1752099365, ss1933596518, ss1946357272, ss1959489669, ss1967743115, ss2027553857, ss2155918566, ss2359196932, ss2628265048, ss2633043724, ss2700290740, ss2710778959, ss2917936209, ss3010773152, ss3021494331, ss3350381544, ss3625640563, ss3627029470, ss3631047972, ss3633044100, ss3633746215, ss3634537325, ss3635436437, ss3636223891, ss3637187492, ss3638002128, ss3640244656, ss3641039523, ss3641334402, ss3644610300, ss3651879677, ss3678033916, ss3739611730, ss3744109307, ss3744838059, ss3751274867, ss3772337174, ss3833466497, ss3879659278, ss3928480601, ss3984677749, ss3985630857, ss4017624417, ss5209313441 NC_000013.10:29101680:C:T NC_000013.11:28527543:C:T (self)
426364306, 954953, 29644708, 958006, 97876587, 156519267, 1562268030, ss2195096708, ss3027592451, ss3188764287, ss3694990205, ss3725381433, ss3771736537, ss3816605903, ss3973266707, ss4940973609 NC_000013.11:28527543:C:T NC_000013.11:28527543:C:T (self)
ss13254263 NT_009799.12:10081680:C:T NC_000013.11:28527543:C:T (self)
ss67929917, ss68050280, ss68306338, ss69129393, ss71614959, ss75437621, ss76567231, ss84834834, ss98271489, ss154500517, ss154582585, ss159674381, ss160998116, ss174865202 NT_024524.14:10081680:C:T NC_000013.11:28527543:C: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 rs9550377

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.post596+ae089ad