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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.

rs3737728

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:1086035 (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=0.239832 (63481/264690, TOPMED)
A=0.237533 (58568/246568, GnomAD_exome)
A=0.273724 (49209/179776, ALFA) (+ 20 more)
A=0.244069 (28804/118016, ExAC)
A=0.08681 (1455/16760, 8.3KJPN)
A=0.26000 (3379/12996, GO-ESP)
A=0.1873 (938/5008, 1000G)
A=0.2940 (1317/4480, Estonian)
A=0.2626 (1012/3854, ALSPAC)
A=0.2799 (1038/3708, TWINSUK)
A=0.1096 (321/2930, KOREAN)
A=0.1823 (380/2084, HGDP_Stanford)
A=0.2238 (423/1890, HapMap)
A=0.270 (269/998, GoNL)
A=0.338 (203/600, NorthernSweden)
A=0.082 (47/575, Vietnamese)
G=0.081 (43/534, MGP)
A=0.160 (85/532, SGDP_PRJ)
A=0.266 (81/304, FINRISK)
A=0.204 (44/216, Qatari)
A=0.15 (10/66, Ancient Sardinia)
A=0.15 (8/52, Siberian)
A=0.30 (12/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
C1orf159 : Intron Variant
Publications
2 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 1 NC_000001.11:g.1086035A>C
GRCh38.p13 chr 1 NC_000001.11:g.1086035A>G
GRCh38.p13 chr 1 NC_000001.11:g.1086035A>T
GRCh37.p13 chr 1 NC_000001.10:g.1021415A>C
GRCh37.p13 chr 1 NC_000001.10:g.1021415A>G
GRCh37.p13 chr 1 NC_000001.10:g.1021415A>T
Gene: C1orf159, chromosome 1 open reading frame 159 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
C1orf159 transcript variant 1 NM_001330306.2:c.419-23T>G N/A Intron Variant
C1orf159 transcript variant 3 NM_001363525.2:c.311-23T>G N/A Intron Variant
C1orf159 transcript variant 2 NM_017891.5:c.311-23T>G N/A Intron 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

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 179776 A=0.273724 C=0.000000, G=0.726276, T=0.000000
European Sub 158192 A=0.280400 C=0.000000, G=0.719600, T=0.000000
African Sub 4438 A=0.2512 C=0.0000, G=0.7488, T=0.0000
African Others Sub 142 A=0.246 C=0.000, G=0.754, T=0.000
African American Sub 4296 A=0.2514 C=0.0000, G=0.7486, T=0.0000
Asian Sub 470 A=0.091 C=0.000, G=0.909, T=0.000
East Asian Sub 384 A=0.089 C=0.000, G=0.911, T=0.000
Other Asian Sub 86 A=0.10 C=0.00, G=0.90, T=0.00
Latin American 1 Sub 544 A=0.283 C=0.000, G=0.717, T=0.000
Latin American 2 Sub 4948 A=0.1756 C=0.0000, G=0.8244, T=0.0000
South Asian Sub 4932 A=0.2208 C=0.0000, G=0.7792, T=0.0000
Other Sub 6252 A=0.2530 C=0.0000, G=0.7470, T=0.0000


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=0.239832 G=0.760168
gnomAD - Exomes Global Study-wide 246568 A=0.237533 G=0.762467
gnomAD - Exomes European Sub 131808 A=0.281933 G=0.718067
gnomAD - Exomes Asian Sub 48698 A=0.17383 G=0.82617
gnomAD - Exomes American Sub 34266 A=0.17691 G=0.82309
gnomAD - Exomes African Sub 15826 A=0.21446 G=0.78554
gnomAD - Exomes Ashkenazi Jewish Sub 9950 A=0.2029 G=0.7971
gnomAD - Exomes Other Sub 6020 A=0.2437 G=0.7563
ExAC Global Study-wide 118016 A=0.244069 G=0.755931
ExAC Europe Sub 71030 A=0.28304 G=0.71696
ExAC Asian Sub 24850 A=0.17557 G=0.82443
ExAC American Sub 11270 A=0.17702 G=0.82298
ExAC African Sub 9996 A=0.2143 G=0.7857
ExAC Other Sub 870 A=0.230 G=0.770
8.3KJPN JAPANESE Study-wide 16760 A=0.08681 G=0.91319
GO Exome Sequencing Project Global Study-wide 12996 A=0.26000 G=0.74000
GO Exome Sequencing Project European American Sub 8596 A=0.2783 G=0.7217
GO Exome Sequencing Project African American Sub 4400 A=0.2243 G=0.7757
1000Genomes Global Study-wide 5008 A=0.1873 G=0.8127
1000Genomes African Sub 1322 A=0.1891 G=0.8109
1000Genomes East Asian Sub 1008 A=0.0823 G=0.9177
1000Genomes Europe Sub 1006 A=0.2614 G=0.7386
1000Genomes South Asian Sub 978 A=0.212 G=0.788
1000Genomes American Sub 694 A=0.195 G=0.805
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.2940 G=0.7060
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.2626 G=0.7374
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.2799 G=0.7201
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.1096 G=0.8904, T=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.1823 G=0.8177
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.096 G=0.904
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.222 G=0.778
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.257 G=0.743
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.228 G=0.772
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.182 G=0.818
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.116 G=0.884
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.15 G=0.85
HapMap Global Study-wide 1890 A=0.2238 G=0.7762
HapMap American Sub 770 A=0.222 G=0.778
HapMap African Sub 690 A=0.261 G=0.739
HapMap Asian Sub 254 A=0.079 G=0.921
HapMap Europe Sub 176 A=0.295 G=0.705
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.270 G=0.730
Northern Sweden ACPOP Study-wide 600 A=0.338 G=0.662
A Vietnamese Genetic Variation Database Global Study-wide 575 A=0.082 G=0.918
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.919 G=0.081
SGDP_PRJ Global Study-wide 532 A=0.160 G=0.840
FINRISK Finnish from FINRISK project Study-wide 304 A=0.266 G=0.734
Qatari Global Study-wide 216 A=0.204 G=0.796
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 66 A=0.15 G=0.85
Siberian Global Study-wide 52 A=0.15 G=0.85
The Danish reference pan genome Danish Study-wide 40 A=0.30 G=0.70
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 1 NC_000001.11:g.1086035= NC_000001.11:g.1086035A>C NC_000001.11:g.1086035A>G NC_000001.11:g.1086035A>T
GRCh37.p13 chr 1 NC_000001.10:g.1021415= NC_000001.10:g.1021415A>C NC_000001.10:g.1021415A>G NC_000001.10:g.1021415A>T
C1orf159 transcript variant 1 NM_001330306.2:c.419-23= NM_001330306.2:c.419-23T>G NM_001330306.2:c.419-23T>C NM_001330306.2:c.419-23T>A
C1orf159 transcript variant 3 NM_001363525.2:c.311-23= NM_001363525.2:c.311-23T>G NM_001363525.2:c.311-23T>C NM_001363525.2:c.311-23T>A
C1orf159 transcript variant 2 NM_017891.4:c.311-23= NM_017891.4:c.311-23T>G NM_017891.4:c.311-23T>C NM_017891.4:c.311-23T>A
C1orf159 transcript variant 2 NM_017891.5:c.311-23= NM_017891.5:c.311-23T>G NM_017891.5:c.311-23T>C NM_017891.5:c.311-23T>A
C1orf159 transcript variant X1 XM_005244764.1:c.419-23= XM_005244764.1:c.419-23T>G XM_005244764.1:c.419-23T>C XM_005244764.1:c.419-23T>A
C1orf159 transcript variant X16 XM_005244765.1:c.311-23= XM_005244765.1:c.311-23T>G XM_005244765.1:c.311-23T>C XM_005244765.1:c.311-23T>A
C1orf159 transcript variant X3 XM_005244766.1:c.419-23= XM_005244766.1:c.419-23T>G XM_005244766.1:c.419-23T>C XM_005244766.1:c.419-23T>A
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#.

133 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss4923727 Aug 28, 2002 (107)
2 SC_SNP ss13052227 Dec 05, 2003 (119)
3 SC_SNP ss15400808 Feb 27, 2004 (120)
4 CSHL-HAPMAP ss17329098 Feb 27, 2004 (120)
5 SSAHASNP ss20495337 Apr 05, 2004 (121)
6 PERLEGEN ss23803630 Sep 20, 2004 (123)
7 ABI ss41064259 Mar 15, 2006 (126)
8 ILLUMINA ss66681235 Dec 01, 2006 (127)
9 ILLUMINA ss67298067 Dec 01, 2006 (127)
10 ILLUMINA ss67702623 Dec 01, 2006 (127)
11 PERLEGEN ss68756313 May 18, 2007 (127)
12 ILLUMINA ss70776696 May 25, 2008 (130)
13 ILLUMINA ss71352791 May 18, 2007 (127)
14 SI_EXO ss71648569 May 18, 2007 (127)
15 ILLUMINA ss75586199 Dec 06, 2007 (129)
16 HGSV ss77723451 Dec 06, 2007 (129)
17 HGSV ss78642201 Dec 06, 2007 (129)
18 ILLUMINA ss79163618 Dec 15, 2007 (130)
19 HGSV ss83962922 Dec 15, 2007 (130)
20 KRIBB_YJKIM ss84161248 Dec 15, 2007 (130)
21 HGSV ss85784635 Dec 15, 2007 (130)
22 BCMHGSC_JDW ss87158117 Mar 23, 2008 (129)
23 HUMANGENOME_JCVI ss97913586 Feb 06, 2009 (130)
24 BGI ss105112089 Dec 01, 2009 (131)
25 1000GENOMES ss107938558 Jan 22, 2009 (130)
26 ILLUMINA-UK ss118440078 Feb 14, 2009 (130)
27 ILLUMINA ss122201478 Dec 01, 2009 (131)
28 ENSEMBL ss137754361 Dec 01, 2009 (131)
29 ENSEMBL ss139301687 Dec 01, 2009 (131)
30 ILLUMINA ss154263827 Dec 01, 2009 (131)
31 GMI ss154527312 Dec 01, 2009 (131)
32 ILLUMINA ss159440675 Dec 01, 2009 (131)
33 ILLUMINA ss160633354 Dec 01, 2009 (131)
34 COMPLETE_GENOMICS ss162982942 Jul 04, 2010 (132)
35 COMPLETE_GENOMICS ss163707006 Jul 04, 2010 (132)
36 ILLUMINA ss171615373 Jul 04, 2010 (132)
37 ILLUMINA ss173616007 Jul 04, 2010 (132)
38 BUSHMAN ss197888397 Jul 04, 2010 (132)
39 BCM-HGSC-SUB ss205458444 Jul 04, 2010 (132)
40 1000GENOMES ss210449474 Jul 14, 2010 (132)
41 1000GENOMES ss218191741 Jul 14, 2010 (132)
42 1000GENOMES ss230396325 Jul 14, 2010 (132)
43 1000GENOMES ss238115888 Jul 15, 2010 (132)
44 BL ss252866248 May 09, 2011 (134)
45 GMI ss275682306 May 04, 2012 (137)
46 GMI ss283987996 Apr 25, 2013 (138)
47 PJP ss290494296 May 09, 2011 (134)
48 ILLUMINA ss480805746 May 04, 2012 (137)
49 ILLUMINA ss480821454 May 04, 2012 (137)
50 ILLUMINA ss481748289 Sep 08, 2015 (146)
51 ILLUMINA ss485197664 May 04, 2012 (137)
52 1000GENOMES ss489714568 May 04, 2012 (137)
53 CLINSEQ_SNP ss491581854 May 04, 2012 (137)
54 TISHKOFF ss553713135 Apr 25, 2013 (138)
55 SSMP ss647518205 Apr 25, 2013 (138)
56 NHLBI-ESP ss712261575 Apr 25, 2013 (138)
57 ILLUMINA ss783044857 Sep 08, 2015 (146)
58 ILLUMINA ss825494136 Apr 01, 2015 (144)
59 ILLUMINA ss832302631 Sep 08, 2015 (146)
60 ILLUMINA ss832952252 Jul 12, 2019 (153)
61 JMKIDD_LAB ss974432491 Aug 21, 2014 (142)
62 EVA-GONL ss974771710 Aug 21, 2014 (142)
63 JMKIDD_LAB ss1067414428 Aug 21, 2014 (142)
64 JMKIDD_LAB ss1067613482 Aug 21, 2014 (142)
65 1000GENOMES ss1289349104 Aug 21, 2014 (142)
66 DDI ss1425685725 Apr 01, 2015 (144)
67 EVA_GENOME_DK ss1573851891 Apr 01, 2015 (144)
68 EVA_FINRISK ss1584003642 Apr 01, 2015 (144)
69 EVA_DECODE ss1584131617 Apr 01, 2015 (144)
70 EVA_UK10K_ALSPAC ss1599381982 Apr 01, 2015 (144)
71 EVA_UK10K_TWINSUK ss1642376015 Apr 01, 2015 (144)
72 EVA_EXAC ss1685225144 Apr 01, 2015 (144)
73 EVA_MGP ss1710883706 Apr 01, 2015 (144)
74 EVA_SVP ss1712305538 Apr 01, 2015 (144)
75 ILLUMINA ss1751859949 Sep 08, 2015 (146)
76 HAMMER_LAB ss1793716515 Sep 08, 2015 (146)
77 WEILL_CORNELL_DGM ss1917963573 Feb 12, 2016 (147)
78 GENOMED ss1966667715 Jul 19, 2016 (147)
79 JJLAB ss2019499670 Sep 14, 2016 (149)
80 USC_VALOUEV ss2147486342 Dec 20, 2016 (150)
81 HUMAN_LONGEVITY ss2159383690 Dec 20, 2016 (150)
82 TOPMED ss2321523018 Dec 20, 2016 (150)
83 SYSTEMSBIOZJU ss2624265447 Nov 08, 2017 (151)
84 ILLUMINA ss2632465721 Nov 08, 2017 (151)
85 GRF ss2697377283 Nov 08, 2017 (151)
86 GNOMAD ss2730998593 Nov 08, 2017 (151)
87 GNOMAD ss2746173668 Nov 08, 2017 (151)
88 GNOMAD ss2750668391 Nov 08, 2017 (151)
89 SWEGEN ss2986153874 Nov 08, 2017 (151)
90 BIOINF_KMB_FNS_UNIBA ss3023514221 Nov 08, 2017 (151)
91 TOPMED ss3066464610 Nov 08, 2017 (151)
92 TOPMED ss3066464611 Nov 08, 2017 (151)
93 TOPMED ss3066464612 Nov 08, 2017 (151)
94 CSHL ss3343274066 Nov 08, 2017 (151)
95 ILLUMINA ss3632878059 Oct 11, 2018 (152)
96 ILLUMINA ss3633571476 Oct 11, 2018 (152)
97 ILLUMINA ss3634302060 Oct 11, 2018 (152)
98 ILLUMINA ss3635265680 Oct 11, 2018 (152)
99 ILLUMINA ss3635978706 Oct 11, 2018 (152)
100 ILLUMINA ss3637016020 Oct 11, 2018 (152)
101 ILLUMINA ss3637732490 Oct 11, 2018 (152)
102 ILLUMINA ss3638887863 Oct 11, 2018 (152)
103 ILLUMINA ss3639440636 Oct 11, 2018 (152)
104 ILLUMINA ss3640009426 Oct 11, 2018 (152)
105 ILLUMINA ss3640973167 Oct 11, 2018 (152)
106 ILLUMINA ss3641266982 Oct 11, 2018 (152)
107 ILLUMINA ss3642746765 Oct 11, 2018 (152)
108 OMUKHERJEE_ADBS ss3646218961 Oct 11, 2018 (152)
109 URBANLAB ss3646581839 Oct 11, 2018 (152)
110 EGCUT_WGS ss3654264977 Jul 12, 2019 (153)
111 EVA_DECODE ss3685997364 Jul 12, 2019 (153)
112 ACPOP ss3726718445 Jul 12, 2019 (153)
113 ILLUMINA ss3744602991 Jul 12, 2019 (153)
114 EVA ss3745723936 Jul 12, 2019 (153)
115 ILLUMINA ss3772104749 Jul 12, 2019 (153)
116 PACBIO ss3783303008 Jul 12, 2019 (153)
117 PACBIO ss3788980796 Jul 12, 2019 (153)
118 PACBIO ss3793853345 Jul 12, 2019 (153)
119 KHV_HUMAN_GENOMES ss3798746567 Jul 12, 2019 (153)
120 EVA ss3823542933 Apr 25, 2020 (154)
121 EVA ss3825982480 Apr 25, 2020 (154)
122 EVA ss3836379001 Apr 25, 2020 (154)
123 EVA ss3841783028 Apr 25, 2020 (154)
124 HGDP ss3847322113 Apr 25, 2020 (154)
125 SGDP_PRJ ss3848003126 Apr 25, 2020 (154)
126 KRGDB ss3892845684 Apr 25, 2020 (154)
127 FSA-LAB ss3983910691 Apr 25, 2021 (155)
128 FSA-LAB ss3983910692 Apr 25, 2021 (155)
129 EVA ss3984774089 Apr 25, 2021 (155)
130 EVA ss3986091173 Apr 25, 2021 (155)
131 TOPMED ss4436511246 Apr 25, 2021 (155)
132 TOMMO_GENOMICS ss5142065449 Apr 25, 2021 (155)
133 EVA ss5237158420 Apr 25, 2021 (155)
134 1000Genomes NC_000001.10 - 1021415 Oct 11, 2018 (152)
135 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 1021415 Oct 11, 2018 (152)
136 Genetic variation in the Estonian population NC_000001.10 - 1021415 Oct 11, 2018 (152)
137 ExAC NC_000001.10 - 1021415 Oct 11, 2018 (152)
138 FINRISK NC_000001.10 - 1021415 Apr 25, 2020 (154)
139 The Danish reference pan genome NC_000001.10 - 1021415 Apr 25, 2020 (154)
140 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 133641 (NC_000001.11:1086034:A:G 105417/140222)
Row 133642 (NC_000001.11:1086034:A:T 1/140236)

- Apr 25, 2021 (155)
141 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 133641 (NC_000001.11:1086034:A:G 105417/140222)
Row 133642 (NC_000001.11:1086034:A:T 1/140236)

- Apr 25, 2021 (155)
142 gnomAD - Exomes NC_000001.10 - 1021415 Jul 12, 2019 (153)
143 GO Exome Sequencing Project NC_000001.10 - 1021415 Oct 11, 2018 (152)
144 Genome of the Netherlands Release 5 NC_000001.10 - 1021415 Apr 25, 2020 (154)
145 HGDP-CEPH-db Supplement 1 NC_000001.9 - 1011278 Apr 25, 2020 (154)
146 HapMap NC_000001.11 - 1086035 Apr 25, 2020 (154)
147 KOREAN population from KRGDB NC_000001.10 - 1021415 Apr 25, 2020 (154)
148 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 1021415 Apr 25, 2020 (154)
149 Northern Sweden NC_000001.10 - 1021415 Jul 12, 2019 (153)
150 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 1021415 Apr 25, 2021 (155)
151 Qatari NC_000001.10 - 1021415 Apr 25, 2020 (154)
152 SGDP_PRJ NC_000001.10 - 1021415 Apr 25, 2020 (154)
153 Siberian NC_000001.10 - 1021415 Apr 25, 2020 (154)
154 8.3KJPN NC_000001.10 - 1021415 Apr 25, 2021 (155)
155 TopMed NC_000001.11 - 1086035 Apr 25, 2021 (155)
156 UK 10K study - Twins NC_000001.10 - 1021415 Oct 11, 2018 (152)
157 A Vietnamese Genetic Variation Database NC_000001.10 - 1021415 Jul 12, 2019 (153)
158 ALFA NC_000001.11 - 1086035 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)
rs60069053 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
3309089838, ss3066464610 NC_000001.11:1086034:A:C NC_000001.11:1086034:A:C (self)
ss77723451, ss78642201, ss83962922, ss85784635, ss3638887863, ss3639440636 NC_000001.8:1061337:A:G NC_000001.11:1086034:A:G (self)
5, ss87158117, ss107938558, ss118440078, ss160633354, ss162982942, ss163707006, ss197888397, ss205458444, ss210449474, ss252866248, ss275682306, ss283987996, ss290494296, ss480805746, ss491581854, ss825494136, ss1584131617, ss1712305538, ss3642746765, ss3847322113 NC_000001.9:1011277:A:G NC_000001.11:1086034:A:G (self)
14195, 4327, 3225, 4398733, 103, 1359125, 13395, 1670, 2076, 23078, 458, 3310, 16, 5503, 20106, 2696, 34756, 4327, 990, ss218191741, ss230396325, ss238115888, ss480821454, ss481748289, ss485197664, ss489714568, ss553713135, ss647518205, ss712261575, ss783044857, ss832302631, ss832952252, ss974432491, ss974771710, ss1067414428, ss1067613482, ss1289349104, ss1425685725, ss1573851891, ss1584003642, ss1599381982, ss1642376015, ss1685225144, ss1710883706, ss1751859949, ss1793716515, ss1917963573, ss1966667715, ss2019499670, ss2147486342, ss2321523018, ss2624265447, ss2632465721, ss2697377283, ss2730998593, ss2746173668, ss2750668391, ss2986153874, ss3343274066, ss3632878059, ss3633571476, ss3634302060, ss3635265680, ss3635978706, ss3637016020, ss3637732490, ss3640009426, ss3640973167, ss3641266982, ss3646218961, ss3654264977, ss3726718445, ss3744602991, ss3745723936, ss3772104749, ss3783303008, ss3788980796, ss3793853345, ss3823542933, ss3825982480, ss3836379001, ss3848003126, ss3892845684, ss3983910691, ss3983910692, ss3984774089, ss3986091173, ss5142065449 NC_000001.10:1021414:A:G NC_000001.11:1086034:A:G (self)
187, 65767, 117581, 3309089838, ss2159383690, ss3023514221, ss3066464611, ss3646581839, ss3685997364, ss3798746567, ss3841783028, ss4436511246, ss5237158420 NC_000001.11:1086034:A:G NC_000001.11:1086034:A:G (self)
ss4923727, ss23803630, ss41064259, ss66681235, ss67298067, ss67702623, ss68756313, ss70776696, ss71352791, ss71648569, ss75586199, ss79163618, ss84161248, ss97913586, ss105112089, ss122201478, ss137754361, ss139301687, ss154263827, ss154527312, ss159440675, ss171615373, ss173616007 NT_004350.19:500046:A:G NC_000001.11:1086034:A:G (self)
ss15400808, ss17329098, ss20495337 NT_077913.2:25125:A:G NC_000001.11:1086034:A:G (self)
ss13052227 NT_077960.1:92900:A:G NC_000001.11:1086034:A:G (self)
23078, ss3892845684 NC_000001.10:1021414:A:T NC_000001.11:1086034:A:T (self)
3309089838, ss2159383690, ss3066464612 NC_000001.11:1086034:A:T NC_000001.11:1086034: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.

2 citations for rs3737728
PMID Title Author Year Journal
19176549 Genome-wide association analysis by lasso penalized logistic regression. Wu TT et al. 2009 Bioinformatics (Oxford, England)
20964851 CCRaVAT and QuTie-enabling analysis of rare variants in large-scale case control and quantitative trait association studies. Lawrence R et al. 2010 BMC bioinformatics
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