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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.

rs1544198

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:6272258 (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
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.477714 (126446/264690, TOPMED)
G=0.386794 (78547/203072, ALFA)
G=0.472235 (66110/139994, GnomAD) (+ 17 more)
A=0.31683 (5310/16760, 8.3KJPN)
A=0.4245 (2126/5008, 1000G)
G=0.3596 (1611/4480, Estonian)
G=0.3638 (1402/3854, ALSPAC)
G=0.3617 (1341/3708, TWINSUK)
A=0.3352 (982/2930, KOREAN)
A=0.4568 (952/2084, HGDP_Stanford)
A=0.3964 (750/1892, HapMap)
A=0.3532 (647/1832, Korea1K)
G=0.349 (348/998, GoNL)
G=0.352 (211/600, NorthernSweden)
G=0.352 (128/364, SGDP_PRJ)
G=0.458 (99/216, Qatari)
A=0.335 (71/212, Vietnamese)
G=0.45 (40/88, Ancient Sardinia)
G=0.18 (8/44, Siberian)
G=0.42 (17/40, 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.6272258G>A
GRCh38.p13 chr 10 NC_000010.11:g.6272258G>T
GRCh37.p13 chr 10 NC_000010.10:g.6314221G>A
GRCh37.p13 chr 10 NC_000010.10:g.6314221G>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 203072 G=0.386794 A=0.613206
European Sub 175948 G=0.367182 A=0.632818
African Sub 7240 G=0.6322 A=0.3678
African Others Sub 248 G=0.702 A=0.298
African American Sub 6992 G=0.6297 A=0.3703
Asian Sub 618 G=0.707 A=0.293
East Asian Sub 504 G=0.704 A=0.296
Other Asian Sub 114 G=0.719 A=0.281
Latin American 1 Sub 840 G=0.496 A=0.504
Latin American 2 Sub 7722 G=0.4435 A=0.5565
South Asian Sub 5032 G=0.5423 A=0.4577
Other Sub 5672 G=0.4156 A=0.5844


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 G=0.477714 A=0.522286
gnomAD - Genomes Global Study-wide 139994 G=0.472235 A=0.527765
gnomAD - Genomes European Sub 75832 G=0.37981 A=0.62019
gnomAD - Genomes African Sub 41954 G=0.63193 A=0.36807
gnomAD - Genomes American Sub 13626 G=0.46257 A=0.53743
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.4173 A=0.5827
gnomAD - Genomes East Asian Sub 3110 G=0.6633 A=0.3367
gnomAD - Genomes Other Sub 2148 G=0.4856 A=0.5144
8.3KJPN JAPANESE Study-wide 16760 G=0.68317 A=0.31683
1000Genomes Global Study-wide 5008 G=0.5755 A=0.4245
1000Genomes African Sub 1322 G=0.6899 A=0.3101
1000Genomes East Asian Sub 1008 G=0.6508 A=0.3492
1000Genomes Europe Sub 1006 G=0.3966 A=0.6034
1000Genomes South Asian Sub 978 G=0.600 A=0.400
1000Genomes American Sub 694 G=0.473 A=0.527
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.3596 A=0.6404
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.3638 A=0.6362
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.3617 A=0.6383
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.6648 A=0.3352, T=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.5432 A=0.4568
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.645 A=0.355
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.519 A=0.481
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.486 A=0.514
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.350 A=0.650
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.736 A=0.264
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.463 A=0.537
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.75 A=0.25
HapMap Global Study-wide 1892 G=0.6036 A=0.3964
HapMap American Sub 770 G=0.514 A=0.486
HapMap African Sub 692 G=0.723 A=0.277
HapMap Asian Sub 254 G=0.681 A=0.319
HapMap Europe Sub 176 G=0.415 A=0.585
Korean Genome Project KOREAN Study-wide 1832 G=0.6468 A=0.3532
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.349 A=0.651
Northern Sweden ACPOP Study-wide 600 G=0.352 A=0.648
SGDP_PRJ Global Study-wide 364 G=0.352 A=0.648
Qatari Global Study-wide 216 G=0.458 A=0.542
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.665 A=0.335
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 88 G=0.45 A=0.55
Siberian Global Study-wide 44 G=0.18 A=0.82
The Danish reference pan genome Danish Study-wide 40 G=0.42 A=0.57
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 G= A T
GRCh38.p13 chr 10 NC_000010.11:g.6272258= NC_000010.11:g.6272258G>A NC_000010.11:g.6272258G>T
GRCh37.p13 chr 10 NC_000010.10:g.6314221= NC_000010.10:g.6314221G>A NC_000010.10:g.6314221G>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#.

112 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2386362 Oct 23, 2000 (88)
2 SC_JCM ss6140925 Feb 20, 2003 (111)
3 SC_SNP ss15892255 Feb 27, 2004 (120)
4 PERLEGEN ss24073785 Sep 20, 2004 (123)
5 AFFY ss66516328 Nov 29, 2006 (127)
6 ILLUMINA ss66608182 Nov 29, 2006 (127)
7 ILLUMINA ss67129670 Nov 29, 2006 (127)
8 ILLUMINA ss67469150 Nov 29, 2006 (127)
9 PERLEGEN ss69068741 May 16, 2007 (127)
10 ILLUMINA ss70441896 May 16, 2007 (127)
11 ILLUMINA ss70630774 May 26, 2008 (130)
12 ILLUMINA ss71180772 May 16, 2007 (127)
13 ILLUMINA ss75437025 Dec 07, 2007 (129)
14 AFFY ss76338957 Dec 07, 2007 (129)
15 HGSV ss77192275 Dec 07, 2007 (129)
16 HGSV ss78612135 Dec 07, 2007 (129)
17 HGSV ss81970430 Dec 16, 2007 (130)
18 HGSV ss82102191 Dec 16, 2007 (130)
19 KRIBB_YJKIM ss83826827 Dec 16, 2007 (130)
20 BCMHGSC_JDW ss88080937 Mar 23, 2008 (129)
21 BGI ss102850385 Dec 01, 2009 (131)
22 1000GENOMES ss109197458 Jan 23, 2009 (130)
23 1000GENOMES ss115305417 Jan 25, 2009 (130)
24 ILLUMINA-UK ss119003925 Feb 15, 2009 (130)
25 ILLUMINA ss121744626 Dec 01, 2009 (131)
26 ENSEMBL ss131661847 Dec 01, 2009 (131)
27 ILLUMINA ss153504818 Dec 01, 2009 (131)
28 GMI ss154522767 Dec 01, 2009 (131)
29 ILLUMINA ss159282980 Dec 01, 2009 (131)
30 ILLUMINA ss160369995 Dec 01, 2009 (131)
31 COMPLETE_GENOMICS ss167743269 Jul 04, 2010 (132)
32 COMPLETE_GENOMICS ss168978875 Jul 04, 2010 (132)
33 COMPLETE_GENOMICS ss170369374 Jul 04, 2010 (132)
34 ILLUMINA ss170630490 Jul 04, 2010 (132)
35 ILLUMINA ss172570493 Jul 04, 2010 (132)
36 AFFY ss173312638 Jul 04, 2010 (132)
37 BCM-HGSC-SUB ss207042291 Jul 04, 2010 (132)
38 1000GENOMES ss224544550 Jul 14, 2010 (132)
39 1000GENOMES ss235038084 Jul 15, 2010 (132)
40 1000GENOMES ss241773899 Jul 15, 2010 (132)
41 BL ss254025831 May 09, 2011 (134)
42 GMI ss280464765 May 04, 2012 (137)
43 GMI ss286122485 Apr 25, 2013 (138)
44 PJP ss290900166 May 09, 2011 (134)
45 ILLUMINA ss480034248 May 04, 2012 (137)
46 ILLUMINA ss480697419 Sep 08, 2015 (146)
47 ILLUMINA ss536891086 Sep 08, 2015 (146)
48 TISHKOFF ss561745416 Apr 25, 2013 (138)
49 SSMP ss656251649 Apr 25, 2013 (138)
50 ILLUMINA ss825410880 Apr 01, 2015 (144)
51 ILLUMINA ss832105907 Apr 01, 2015 (144)
52 ILLUMINA ss832795113 Aug 21, 2014 (142)
53 ILLUMINA ss833385943 Aug 21, 2014 (142)
54 EVA-GONL ss987157330 Aug 21, 2014 (142)
55 JMKIDD_LAB ss1076731724 Aug 21, 2014 (142)
56 1000GENOMES ss1336130206 Aug 21, 2014 (142)
57 DDI ss1426208847 Apr 01, 2015 (144)
58 EVA_GENOME_DK ss1574889255 Apr 01, 2015 (144)
59 EVA_DECODE ss1596805298 Apr 01, 2015 (144)
60 EVA_UK10K_ALSPAC ss1623911806 Apr 01, 2015 (144)
61 EVA_UK10K_TWINSUK ss1666905839 Apr 01, 2015 (144)
62 EVA_SVP ss1713154108 Apr 01, 2015 (144)
63 ILLUMINA ss1751975111 Sep 08, 2015 (146)
64 HAMMER_LAB ss1806238308 Sep 08, 2015 (146)
65 WEILL_CORNELL_DGM ss1930478258 Feb 12, 2016 (147)
66 GENOMED ss1967049555 Jul 19, 2016 (147)
67 JJLAB ss2025962260 Sep 14, 2016 (149)
68 USC_VALOUEV ss2154204301 Dec 20, 2016 (150)
69 HUMAN_LONGEVITY ss2172358634 Dec 20, 2016 (150)
70 TOPMED ss2335067755 Dec 20, 2016 (150)
71 SYSTEMSBIOZJU ss2627450038 Nov 08, 2017 (151)
72 ILLUMINA ss2632669810 Nov 08, 2017 (151)
73 GRF ss2698428211 Nov 08, 2017 (151)
74 ILLUMINA ss2710701786 Nov 08, 2017 (151)
75 GNOMAD ss2885105417 Nov 08, 2017 (151)
76 SWEGEN ss3005875650 Nov 08, 2017 (151)
77 BIOINF_KMB_FNS_UNIBA ss3026764646 Nov 08, 2017 (151)
78 TOPMED ss3110664551 Nov 08, 2017 (151)
79 CSHL ss3348941951 Nov 08, 2017 (151)
80 ILLUMINA ss3626378178 Oct 12, 2018 (152)
81 ILLUMINA ss3632936998 Oct 12, 2018 (152)
82 ILLUMINA ss3633633616 Oct 12, 2018 (152)
83 ILLUMINA ss3634388405 Oct 12, 2018 (152)
84 ILLUMINA ss3635326451 Oct 12, 2018 (152)
85 ILLUMINA ss3636068223 Oct 12, 2018 (152)
86 ILLUMINA ss3637077037 Oct 12, 2018 (152)
87 ILLUMINA ss3637831849 Oct 12, 2018 (152)
88 ILLUMINA ss3638931204 Oct 12, 2018 (152)
89 ILLUMINA ss3639464924 Oct 12, 2018 (152)
90 ILLUMINA ss3640095753 Oct 12, 2018 (152)
91 ILLUMINA ss3642836744 Oct 12, 2018 (152)
92 EGCUT_WGS ss3673402766 Jul 13, 2019 (153)
93 EVA_DECODE ss3689206604 Jul 13, 2019 (153)
94 ACPOP ss3737026944 Jul 13, 2019 (153)
95 ILLUMINA ss3744689279 Jul 13, 2019 (153)
96 EVA ss3747699693 Jul 13, 2019 (153)
97 ILLUMINA ss3772189992 Jul 13, 2019 (153)
98 PACBIO ss3786570205 Jul 13, 2019 (153)
99 PACBIO ss3791764095 Jul 13, 2019 (153)
100 PACBIO ss3796645875 Jul 13, 2019 (153)
101 KHV_HUMAN_GENOMES ss3813062655 Jul 13, 2019 (153)
102 EVA ss3831947035 Apr 26, 2020 (154)
103 EVA ss3839504354 Apr 26, 2020 (154)
104 EVA ss3844970336 Apr 26, 2020 (154)
105 HGDP ss3847374085 Apr 26, 2020 (154)
106 SGDP_PRJ ss3873453533 Apr 26, 2020 (154)
107 KRGDB ss3921388996 Apr 26, 2020 (154)
108 KOGIC ss3967131402 Apr 26, 2020 (154)
109 EVA ss3985455316 Apr 26, 2021 (155)
110 EVA ss4017468490 Apr 26, 2021 (155)
111 TOPMED ss4841243643 Apr 26, 2021 (155)
112 TOMMO_GENOMICS ss5196096915 Apr 26, 2021 (155)
113 1000Genomes NC_000010.10 - 6314221 Oct 12, 2018 (152)
114 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 6314221 Oct 12, 2018 (152)
115 Genetic variation in the Estonian population NC_000010.10 - 6314221 Oct 12, 2018 (152)
116 The Danish reference pan genome NC_000010.10 - 6314221 Apr 26, 2020 (154)
117 gnomAD - Genomes NC_000010.11 - 6272258 Apr 26, 2021 (155)
118 Genome of the Netherlands Release 5 NC_000010.10 - 6314221 Apr 26, 2020 (154)
119 HGDP-CEPH-db Supplement 1 NC_000010.9 - 6354227 Apr 26, 2020 (154)
120 HapMap NC_000010.11 - 6272258 Apr 26, 2020 (154)
121 KOREAN population from KRGDB NC_000010.10 - 6314221 Apr 26, 2020 (154)
122 Korean Genome Project NC_000010.11 - 6272258 Apr 26, 2020 (154)
123 Northern Sweden NC_000010.10 - 6314221 Jul 13, 2019 (153)
124 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000010.10 - 6314221 Apr 26, 2021 (155)
125 Qatari NC_000010.10 - 6314221 Apr 26, 2020 (154)
126 SGDP_PRJ NC_000010.10 - 6314221 Apr 26, 2020 (154)
127 Siberian NC_000010.10 - 6314221 Apr 26, 2020 (154)
128 8.3KJPN NC_000010.10 - 6314221 Apr 26, 2021 (155)
129 TopMed NC_000010.11 - 6272258 Apr 26, 2021 (155)
130 UK 10K study - Twins NC_000010.10 - 6314221 Oct 12, 2018 (152)
131 A Vietnamese Genetic Variation Database NC_000010.10 - 6314221 Jul 13, 2019 (153)
132 ALFA NC_000010.11 - 6272258 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)
rs61380221 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77192275, ss78612135, ss81970430, ss82102191, ss3638931204, ss3639464924 NC_000010.8:6354226:G:A NC_000010.11:6272257:G:A (self)
51977, ss88080937, ss109197458, ss115305417, ss119003925, ss167743269, ss168978875, ss170369374, ss207042291, ss254025831, ss280464765, ss286122485, ss290900166, ss825410880, ss1596805298, ss1713154108, ss3642836744, ss3847374085 NC_000010.9:6354226:G:A NC_000010.11:6272257:G:A (self)
48471520, 26932211, 19141014, 2014459, 12012214, 28566390, 10311809, 681243, 12520188, 25470513, 6720655, 54066222, 26932211, 5978595, ss224544550, ss235038084, ss241773899, ss480034248, ss480697419, ss536891086, ss561745416, ss656251649, ss832105907, ss832795113, ss833385943, ss987157330, ss1076731724, ss1336130206, ss1426208847, ss1574889255, ss1623911806, ss1666905839, ss1751975111, ss1806238308, ss1930478258, ss1967049555, ss2025962260, ss2154204301, ss2335067755, ss2627450038, ss2632669810, ss2698428211, ss2710701786, ss2885105417, ss3005875650, ss3348941951, ss3626378178, ss3632936998, ss3633633616, ss3634388405, ss3635326451, ss3636068223, ss3637077037, ss3637831849, ss3640095753, ss3673402766, ss3737026944, ss3744689279, ss3747699693, ss3772189992, ss3786570205, ss3791764095, ss3796645875, ss3831947035, ss3839504354, ss3873453533, ss3921388996, ss3985455316, ss4017468490, ss5196096915 NC_000010.10:6314220:G:A NC_000010.11:6272257:G:A (self)
342416380, 330072, 23509403, 35684221, 56789298, 4703556206, ss2172358634, ss3026764646, ss3110664551, ss3689206604, ss3813062655, ss3844970336, ss3967131402, ss4841243643 NC_000010.11:6272257:G:A NC_000010.11:6272257:G:A (self)
ss2386362, ss6140925, ss24073785, ss66516328, ss66608182, ss67129670, ss67469150, ss69068741, ss70441896, ss70630774, ss71180772, ss75437025, ss76338957, ss83826827, ss102850385, ss121744626, ss131661847, ss153504818, ss154522767, ss159282980, ss160369995, ss170630490, ss172570493, ss173312638 NT_008705.16:6254220:G:A NC_000010.11:6272257:G:A (self)
ss15892255 NT_077569.2:677116:G:A NC_000010.11:6272257:G:A (self)
28566390, ss3921388996 NC_000010.10:6314220:G:T NC_000010.11:6272257:G: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 rs1544198

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