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.

rs9419554

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:89297 (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
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.036548 (9674/264690, TOPMED)
A=0.034642 (4843/139800, GnomAD)
A=0.01874 (347/18520, ALFA) (+ 14 more)
A=0.00000 (0/16760, 8.3KJPN)
A=0.0353 (177/5008, 1000G)
A=0.0000 (0/3854, ALSPAC)
A=0.0000 (0/3708, TWINSUK)
A=0.0000 (0/2930, KOREAN)
C=0.0000 (0/2930, KOREAN)
T=0.0000 (0/2930, KOREAN)
A=0.0000 (0/1832, Korea1K)
A=0.000 (0/600, NorthernSweden)
A=0.004 (2/558, SGDP_PRJ)
A=0.031 (10/322, HapMap)
A=0.005 (1/216, Qatari)
A=0.00 (0/56, Siberian)
A=0.00 (0/40, GENOME_DK)
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 10 NC_000010.11:g.89297A>C
GRCh38.p13 chr 10 NC_000010.11:g.89297A>G
GRCh38.p13 chr 10 NC_000010.11:g.89297A>T
GRCh37.p13 chr 10 NC_000010.10:g.135237A>C
GRCh37.p13 chr 10 NC_000010.10:g.135237A>G
GRCh37.p13 chr 10 NC_000010.10:g.135237A>T
GRCh37.p13 chr 10 fix patch HG905_PATCH NW_003571043.1:g.79297A>C
GRCh37.p13 chr 10 fix patch HG905_PATCH NW_003571043.1:g.79297A>G
GRCh37.p13 chr 10 fix patch HG905_PATCH NW_003571043.1:g.79297A>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 18520 A=0.01874 G=0.98126
European Sub 14152 A=0.00007 G=0.99993
African Sub 2898 A=0.1104 G=0.8896
African Others Sub 114 A=0.219 G=0.781
African American Sub 2784 A=0.1060 G=0.8940
Asian Sub 112 A=0.000 G=1.000
East Asian Sub 86 A=0.00 G=1.00
Other Asian Sub 26 A=0.00 G=1.00
Latin American 1 Sub 146 A=0.014 G=0.986
Latin American 2 Sub 610 A=0.007 G=0.993
South Asian Sub 98 A=0.00 G=1.00
Other Sub 504 A=0.040 G=0.960


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=0.036548 G=0.963452
gnomAD - Genomes Global Study-wide 139800 A=0.034642 G=0.965358
gnomAD - Genomes European Sub 75786 A=0.00030 G=0.99970
gnomAD - Genomes African Sub 41804 A=0.11042 G=0.88958
gnomAD - Genomes American Sub 13620 A=0.01145 G=0.98855
gnomAD - Genomes Ashkenazi Jewish Sub 3314 A=0.0000 G=1.0000
gnomAD - Genomes East Asian Sub 3132 A=0.0000 G=1.0000
gnomAD - Genomes Other Sub 2144 A=0.0224 G=0.9776
Allele Frequency Aggregator Total Global 18520 A=0.01874 G=0.98126
Allele Frequency Aggregator European Sub 14152 A=0.00007 G=0.99993
Allele Frequency Aggregator African Sub 2898 A=0.1104 G=0.8896
Allele Frequency Aggregator Latin American 2 Sub 610 A=0.007 G=0.993
Allele Frequency Aggregator Other Sub 504 A=0.040 G=0.960
Allele Frequency Aggregator Latin American 1 Sub 146 A=0.014 G=0.986
Allele Frequency Aggregator Asian Sub 112 A=0.000 G=1.000
Allele Frequency Aggregator South Asian Sub 98 A=0.00 G=1.00
8.3KJPN JAPANESE Study-wide 16760 A=0.00000 G=1.00000
1000Genomes Global Study-wide 5008 A=0.0353 G=0.9647
1000Genomes African Sub 1322 A=0.1316 G=0.8684
1000Genomes East Asian Sub 1008 A=0.0000 G=1.0000
1000Genomes Europe Sub 1006 A=0.0000 G=1.0000
1000Genomes South Asian Sub 978 A=0.000 G=1.000
1000Genomes American Sub 694 A=0.004 G=0.996
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.0000 G=1.0000
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.0000 G=1.0000
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.0000 C=0.0000, G=1.0000, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 A=0.0000 G=1.0000
Northern Sweden ACPOP Study-wide 600 A=0.000 G=1.000
SGDP_PRJ Global Study-wide 558 A=0.004 G=0.996
HapMap Global Study-wide 322 A=0.031 G=0.969
HapMap American Sub 120 A=0.000 G=1.000
HapMap African Sub 112 A=0.089 G=0.911
HapMap Asian Sub 90 A=0.00 G=1.00
Qatari Global Study-wide 216 A=0.005 G=0.995
Siberian Global Study-wide 56 A=0.00 G=1.00
The Danish reference pan genome Danish Study-wide 40 A=0.00 G=1.00
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= C G T
GRCh38.p13 chr 10 NC_000010.11:g.89297= NC_000010.11:g.89297A>C NC_000010.11:g.89297A>G NC_000010.11:g.89297A>T
GRCh37.p13 chr 10 NC_000010.10:g.135237= NC_000010.10:g.135237A>C NC_000010.10:g.135237A>G NC_000010.10:g.135237A>T
GRCh37.p13 chr 10 fix patch HG905_PATCH NW_003571043.1:g.79297= NW_003571043.1:g.79297A>C NW_003571043.1:g.79297A>G NW_003571043.1:g.79297A>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#.

65 SubSNP, 15 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss12973482 Dec 05, 2003 (119)
2 SC_SNP ss15595255 Feb 27, 2004 (120)
3 CSHL-HAPMAP ss19891390 Feb 27, 2004 (120)
4 HGSV ss77740277 Dec 06, 2007 (129)
5 HGSV ss78670340 Dec 06, 2007 (129)
6 HUMANGENOME_JCVI ss97527218 Feb 04, 2009 (130)
7 BGI ss106648863 Feb 04, 2009 (130)
8 ENSEMBL ss107936009 Feb 04, 2009 (130)
9 1000GENOMES ss109145785 Jan 23, 2009 (130)
10 1000GENOMES ss115221582 Jan 25, 2009 (130)
11 ILLUMINA-UK ss118963262 Feb 15, 2009 (130)
12 ENSEMBL ss138781044 Dec 01, 2009 (131)
13 GMI ss158077413 Dec 01, 2009 (131)
14 ILLUMINA ss159667309 Dec 01, 2009 (131)
15 COMPLETE_GENOMICS ss167614017 Jul 04, 2010 (132)
16 COMPLETE_GENOMICS ss168823585 Jul 04, 2010 (132)
17 COMPLETE_GENOMICS ss170210087 Jul 04, 2010 (132)
18 BUSHMAN ss201023411 Jul 04, 2010 (132)
19 BCM-HGSC-SUB ss207259300 Jul 04, 2010 (132)
20 1000GENOMES ss224512391 Jul 14, 2010 (132)
21 1000GENOMES ss235012282 Jul 15, 2010 (132)
22 1000GENOMES ss241753234 Jul 15, 2010 (132)
23 BL ss253971584 May 09, 2011 (134)
24 GMI ss280440397 May 04, 2012 (137)
25 GMI ss286110762 Apr 25, 2013 (138)
26 PJP ss290815806 May 09, 2011 (134)
27 TISHKOFF ss561707939 Apr 25, 2013 (138)
28 SSMP ss656208284 Apr 25, 2013 (138)
29 ILLUMINA ss833178056 Jul 13, 2019 (153)
30 JMKIDD_LAB ss1076687421 Aug 21, 2014 (142)
31 1000GENOMES ss1335912968 Aug 21, 2014 (142)
32 DDI ss1426189110 Apr 09, 2015 (144)
33 EVA_GENOME_DK ss1574842105 Apr 09, 2015 (144)
34 EVA_DECODE ss1596744276 Apr 01, 2015 (144)
35 EVA_UK10K_ALSPAC ss1623797615 Apr 09, 2015 (144)
36 EVA_UK10K_TWINSUK ss1666791648 Apr 09, 2015 (144)
37 HAMMER_LAB ss1806212567 Sep 11, 2015 (146)
38 WEILL_CORNELL_DGM ss1930414775 Feb 17, 2016 (147)
39 GENOMED ss1967034976 Sep 28, 2016 (149)
40 JJLAB ss2025929578 Sep 28, 2016 (149)
41 USC_VALOUEV ss2154169638 Oct 12, 2018 (152)
42 HUMAN_LONGEVITY ss2171932827 Dec 20, 2016 (150)
43 TOPMED ss2334635434 Oct 12, 2018 (152)
44 GRF ss2698389035 Oct 12, 2018 (152)
45 GNOMAD ss2884519378 Oct 12, 2018 (152)
46 SWEGEN ss3005784449 Oct 12, 2018 (152)
47 BIOINF_KMB_FNS_UNIBA ss3026746714 Nov 08, 2017 (151)
48 TOPMED ss3109332751 Nov 08, 2017 (151)
49 CSHL ss3348911629 Oct 12, 2018 (152)
50 URBANLAB ss3649265505 Oct 12, 2018 (152)
51 EVA_DECODE ss3689095372 Jul 13, 2019 (153)
52 ACPOP ss3736974330 Jul 13, 2019 (153)
53 PACBIO ss3786553506 Jul 13, 2019 (153)
54 PACBIO ss3791748161 Jul 13, 2019 (153)
55 PACBIO ss3796629783 Jul 13, 2019 (153)
56 KHV_HUMAN_GENOMES ss3812993356 Jul 13, 2019 (153)
57 EVA ss3831916752 Apr 26, 2020 (154)
58 EVA ss3839487162 Apr 26, 2020 (154)
59 EVA ss3844952630 Apr 26, 2020 (154)
60 SGDP_PRJ ss3873326486 Apr 26, 2020 (154)
61 KRGDB ss3921253517 Apr 26, 2020 (154)
62 KOGIC ss3967022902 Apr 26, 2020 (154)
63 GNOMAD ss4211411174 Apr 26, 2021 (155)
64 TOPMED ss4839524367 Apr 26, 2021 (155)
65 TOMMO_GENOMICS ss5195848170 Apr 26, 2021 (155)
66 1000Genomes NC_000010.10 - 135237 Oct 12, 2018 (152)
67 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 135237 Oct 12, 2018 (152)
68 The Danish reference pan genome NC_000010.10 - 135237 Apr 26, 2020 (154)
69 gnomAD - Genomes NC_000010.11 - 89297 Apr 26, 2021 (155)
70 HapMap NC_000010.11 - 89297 Apr 26, 2020 (154)
71 KOREAN population from KRGDB NC_000010.10 - 135237 Apr 26, 2020 (154)
72 Korean Genome Project NC_000010.11 - 89297 Apr 26, 2020 (154)
73 Northern Sweden NC_000010.10 - 135237 Jul 13, 2019 (153)
74 Qatari NC_000010.10 - 135237 Apr 26, 2020 (154)
75 SGDP_PRJ NC_000010.10 - 135237 Apr 26, 2020 (154)
76 Siberian NC_000010.10 - 135237 Apr 26, 2020 (154)
77 8.3KJPN NC_000010.10 - 135237 Apr 26, 2021 (155)
78 TopMed NC_000010.11 - 89297 Apr 26, 2021 (155)
79 UK 10K study - Twins NC_000010.10 - 135237 Oct 12, 2018 (152)
80 ALFA NC_000010.11 - 89297 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
28430911, ss3921253517 NC_000010.10:135236:A:C NC_000010.11:89296:A:C (self)
ss77740277, ss78670340 NC_000010.8:125236:A:G NC_000010.11:89296:A:G (self)
ss109145785, ss115221582, ss118963262, ss167614017, ss168823585, ss170210087, ss201023411, ss207259300, ss253971584, ss280440397, ss286110762, ss290815806, ss1596744276 NC_000010.9:125236:A:G NC_000010.11:89296:A:G (self)
48246677, 26806401, 1988118, 28430911, 10259195, 12456705, 25343466, 6685992, 53817477, 26806401, ss224512391, ss235012282, ss241753234, ss561707939, ss656208284, ss833178056, ss1076687421, ss1335912968, ss1426189110, ss1574842105, ss1623797615, ss1666791648, ss1806212567, ss1930414775, ss1967034976, ss2025929578, ss2154169638, ss2334635434, ss2698389035, ss2884519378, ss3005784449, ss3348911629, ss3736974330, ss3786553506, ss3791748161, ss3796629783, ss3831916752, ss3839487162, ss3873326486, ss3921253517, ss5195848170 NC_000010.10:135236:A:G NC_000010.11:89296:A:G (self)
340934361, 317107, 23400903, 34602797, 55070022, 125311438, ss2171932827, ss3026746714, ss3109332751, ss3649265505, ss3689095372, ss3812993356, ss3844952630, ss3967022902, ss4211411174, ss4839524367 NC_000010.11:89296:A:G NC_000010.11:89296:A:G (self)
ss97527218, ss106648863, ss107936009, ss138781044, ss158077413, ss159667309 NT_008705.16:75236:A:G NC_000010.11:89296:A:G (self)
ss12973482 NT_024115.14:75236:A:G NC_000010.11:89296:A:G (self)
ss15595255, ss19891390 NT_077567.3:75236:A:G NC_000010.11:89296:A:G (self)
28430911, ss3921253517 NC_000010.10:135236:A:T NC_000010.11:89296: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.

No publications for rs9419554

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