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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.

rs153734

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:64092333 (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
C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.277211 (73375/264690, TOPMED)
C=0.215346 (54933/255092, ALFA)
C=0.284098 (39797/140082, GnomAD) (+ 20 more)
C=0.43531 (12301/28258, 14KJPN)
C=0.43228 (7245/16760, 8.3KJPN)
C=0.3220 (2062/6404, 1000G_30x)
C=0.3213 (1609/5008, 1000G)
C=0.2527 (1132/4480, Estonian)
C=0.2187 (843/3854, ALSPAC)
C=0.2203 (817/3708, TWINSUK)
C=0.4358 (1277/2930, KOREAN)
C=0.2893 (603/2084, HGDP_Stanford)
C=0.3774 (711/1884, HapMap)
C=0.4416 (809/1832, Korea1K)
C=0.213 (213/998, GoNL)
C=0.385 (303/786, PRJEB37584)
C=0.228 (137/600, NorthernSweden)
C=0.208 (103/496, SGDP_PRJ)
C=0.171 (37/216, Qatari)
C=0.425 (91/214, Vietnamese)
C=0.29 (24/84, Ancient Sardinia)
C=0.23 (12/52, Siberian)
C=0.28 (11/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PRICKLE2-AS1 : Intron Variant
PRICKLE2 : 3 Prime UTR Variant
Publications
3 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 255186 C=0.215325 T=0.784675
European Sub 217718 C=0.207305 T=0.792695
African Sub 10408 C=0.44264 T=0.55736
African Others Sub 360 C=0.442 T=0.558
African American Sub 10048 C=0.44268 T=0.55732
Asian Sub 796 C=0.438 T=0.562
East Asian Sub 618 C=0.439 T=0.561
Other Asian Sub 178 C=0.438 T=0.562
Latin American 1 Sub 986 C=0.231 T=0.769
Latin American 2 Sub 9056 C=0.1184 T=0.8816
South Asian Sub 5056 C=0.2225 T=0.7775
Other Sub 11166 C=0.21789 T=0.78211


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 C=0.277211 T=0.722789
Allele Frequency Aggregator Total Global 255092 C=0.215346 T=0.784654
Allele Frequency Aggregator European Sub 217642 C=0.207318 T=0.792682
Allele Frequency Aggregator Other Sub 11148 C=0.21807 T=0.78193
Allele Frequency Aggregator African Sub 10408 C=0.44264 T=0.55736
Allele Frequency Aggregator Latin American 2 Sub 9056 C=0.1184 T=0.8816
Allele Frequency Aggregator South Asian Sub 5056 C=0.2225 T=0.7775
Allele Frequency Aggregator Latin American 1 Sub 986 C=0.231 T=0.769
Allele Frequency Aggregator Asian Sub 796 C=0.438 T=0.562
gnomAD - Genomes Global Study-wide 140082 C=0.284098 T=0.715902
gnomAD - Genomes European Sub 75886 C=0.22245 T=0.77755
gnomAD - Genomes African Sub 41956 C=0.43450 T=0.56550
gnomAD - Genomes American Sub 13658 C=0.15800 T=0.84200
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.1740 T=0.8260
gnomAD - Genomes East Asian Sub 3114 C=0.4329 T=0.5671
gnomAD - Genomes Other Sub 2146 C=0.2805 T=0.7195
14KJPN JAPANESE Study-wide 28258 C=0.43531 T=0.56469
8.3KJPN JAPANESE Study-wide 16760 C=0.43228 T=0.56772
1000Genomes_30x Global Study-wide 6404 C=0.3220 T=0.6780
1000Genomes_30x African Sub 1786 C=0.4866 T=0.5134
1000Genomes_30x Europe Sub 1266 C=0.2291 T=0.7709
1000Genomes_30x South Asian Sub 1202 C=0.2113 T=0.7887
1000Genomes_30x East Asian Sub 1170 C=0.4171 T=0.5829
1000Genomes_30x American Sub 980 C=0.164 T=0.836
1000Genomes Global Study-wide 5008 C=0.3213 T=0.6787
1000Genomes African Sub 1322 C=0.4803 T=0.5197
1000Genomes East Asian Sub 1008 C=0.4117 T=0.5883
1000Genomes Europe Sub 1006 C=0.2286 T=0.7714
1000Genomes South Asian Sub 978 C=0.218 T=0.782
1000Genomes American Sub 694 C=0.167 T=0.833
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.2527 T=0.7473
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.2187 T=0.7813
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.2203 T=0.7797
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.4358 G=0.0000, T=0.5642
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.2893 T=0.7107
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.421 T=0.579
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.261 T=0.739
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.234 T=0.766
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.209 T=0.791
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.574 T=0.426
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.005 T=0.995
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.11 T=0.89
HapMap Global Study-wide 1884 C=0.3774 T=0.6226
HapMap American Sub 766 C=0.283 T=0.717
HapMap African Sub 690 C=0.541 T=0.459
HapMap Asian Sub 254 C=0.382 T=0.618
HapMap Europe Sub 174 C=0.138 T=0.862
Korean Genome Project KOREAN Study-wide 1832 C=0.4416 T=0.5584
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.213 T=0.787
CNV burdens in cranial meningiomas Global Study-wide 786 C=0.385 T=0.615
CNV burdens in cranial meningiomas CRM Sub 786 C=0.385 T=0.615
Northern Sweden ACPOP Study-wide 600 C=0.228 T=0.772
SGDP_PRJ Global Study-wide 496 C=0.208 T=0.792
Qatari Global Study-wide 216 C=0.171 T=0.829
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.425 T=0.575
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 84 C=0.29 T=0.71
Siberian Global Study-wide 52 C=0.23 T=0.77
The Danish reference pan genome Danish Study-wide 40 C=0.28 T=0.72
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 3 NC_000003.12:g.64092333C>G
GRCh38.p14 chr 3 NC_000003.12:g.64092333C>T
GRCh37.p13 chr 3 NC_000003.11:g.64078009C>G
GRCh37.p13 chr 3 NC_000003.11:g.64078009C>T
PRICKLE2 RefSeqGene NG_031930.1:g.138123G>C
PRICKLE2 RefSeqGene NG_031930.1:g.138123G>A
Gene: PRICKLE2, prickle planar cell polarity protein 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PRICKLE2 transcript variant 1 NM_198859.4:c.*6718= N/A 3 Prime UTR Variant
PRICKLE2 transcript variant 2 NM_001370528.1:c.*6718= N/A 3 Prime UTR Variant
Gene: PRICKLE2-AS1, PRICKLE2 antisense RNA 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PRICKLE2-AS1 transcript NR_045697.1:n. 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
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.p14 chr 3 NC_000003.12:g.64092333= NC_000003.12:g.64092333C>G NC_000003.12:g.64092333C>T
GRCh37.p13 chr 3 NC_000003.11:g.64078009= NC_000003.11:g.64078009C>G NC_000003.11:g.64078009C>T
PRICKLE2 RefSeqGene NG_031930.1:g.138123= NG_031930.1:g.138123G>C NG_031930.1:g.138123G>A
PRICKLE2 transcript variant 1 NM_198859.4:c.*6718= NM_198859.4:c.*6718G>C NM_198859.4:c.*6718G>A
PRICKLE2 transcript variant 2 NM_001370528.1:c.*6718= NM_001370528.1:c.*6718G>C NM_001370528.1:c.*6718G>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#.

151 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss321510 Jul 12, 2000 (79)
2 KWOK ss331366 Jul 12, 2000 (79)
3 KWOK ss1141300 Oct 04, 2000 (86)
4 KWOK ss1141920 Oct 04, 2000 (86)
5 KWOK ss1787629 Oct 18, 2000 (87)
6 KWOK ss1787800 Oct 18, 2000 (87)
7 TSC-CSHL ss2154042 Oct 23, 2000 (88)
8 YUSUKE ss3253545 Sep 28, 2001 (100)
9 SC_JCM ss3606747 Sep 28, 2001 (100)
10 BCM_SSAHASNP ss10099059 Jul 11, 2003 (116)
11 SSAHASNP ss22018571 Apr 05, 2004 (121)
12 PERLEGEN ss23910531 Sep 20, 2004 (123)
13 ABI ss44419208 Mar 13, 2006 (126)
14 AFFY ss66147290 Nov 30, 2006 (127)
15 ILLUMINA ss66830505 Nov 30, 2006 (127)
16 ILLUMINA ss67127834 Nov 30, 2006 (127)
17 ILLUMINA ss67467093 Nov 30, 2006 (127)
18 ILLUMINA ss70441223 May 17, 2007 (127)
19 ILLUMINA ss70629848 May 23, 2008 (130)
20 ILLUMINA ss71179738 May 17, 2007 (127)
21 ILLUMINA ss75883690 Dec 07, 2007 (129)
22 AFFY ss76171866 Dec 08, 2007 (129)
23 KRIBB_YJKIM ss83369259 Dec 14, 2007 (130)
24 HGSV ss83579866 Dec 14, 2007 (130)
25 HGSV ss84047385 Dec 14, 2007 (130)
26 BCMHGSC_JDW ss92116166 Mar 24, 2008 (129)
27 HUMANGENOME_JCVI ss99098273 Feb 03, 2009 (130)
28 BGI ss103944443 Dec 01, 2009 (131)
29 1000GENOMES ss110265635 Jan 24, 2009 (130)
30 1000GENOMES ss111833060 Jan 25, 2009 (130)
31 ILLUMINA-UK ss117110476 Feb 14, 2009 (130)
32 ILLUMINA ss121741030 Dec 01, 2009 (131)
33 ENSEMBL ss135280123 Dec 01, 2009 (131)
34 ENSEMBL ss138904595 Dec 01, 2009 (131)
35 ILLUMINA ss153499707 Dec 01, 2009 (131)
36 GMI ss155570394 Dec 01, 2009 (131)
37 ILLUMINA ss159282020 Dec 01, 2009 (131)
38 ILLUMINA ss160368793 Dec 01, 2009 (131)
39 COMPLETE_GENOMICS ss162207185 Jul 04, 2010 (132)
40 COMPLETE_GENOMICS ss163486146 Jul 04, 2010 (132)
41 COMPLETE_GENOMICS ss166657856 Jul 04, 2010 (132)
42 ILLUMINA ss170621588 Jul 04, 2010 (132)
43 ILLUMINA ss172565847 Jul 04, 2010 (132)
44 AFFY ss172705960 Jul 04, 2010 (132)
45 BUSHMAN ss202624630 Jul 04, 2010 (132)
46 BCM-HGSC-SUB ss206020830 Jul 04, 2010 (132)
47 1000GENOMES ss220179700 Jul 14, 2010 (132)
48 1000GENOMES ss231851971 Jul 14, 2010 (132)
49 1000GENOMES ss239259063 Jul 15, 2010 (132)
50 BL ss253142337 May 09, 2011 (134)
51 GMI ss277155057 May 04, 2012 (137)
52 PJP ss292811157 May 09, 2011 (134)
53 PAGE_STUDY ss469414423 May 04, 2012 (137)
54 ILLUMINA ss480021754 May 04, 2012 (137)
55 ILLUMINA ss480030521 May 04, 2012 (137)
56 ILLUMINA ss480692573 Sep 08, 2015 (146)
57 ILLUMINA ss484809050 May 04, 2012 (137)
58 EXOME_CHIP ss491341959 May 04, 2012 (137)
59 ILLUMINA ss536889672 Sep 08, 2015 (146)
60 TISHKOFF ss556665702 Apr 25, 2013 (138)
61 SSMP ss650345820 Apr 25, 2013 (138)
62 ILLUMINA ss778437416 Sep 08, 2015 (146)
63 ILLUMINA ss782851092 Sep 08, 2015 (146)
64 ILLUMINA ss783815630 Sep 08, 2015 (146)
65 ILLUMINA ss825410207 Jul 19, 2016 (147)
66 ILLUMINA ss832104970 Sep 08, 2015 (146)
67 ILLUMINA ss832794157 Jul 13, 2019 (153)
68 ILLUMINA ss833892929 Sep 08, 2015 (146)
69 EVA-GONL ss978675261 Aug 21, 2014 (142)
70 JMKIDD_LAB ss1070470501 Aug 21, 2014 (142)
71 1000GENOMES ss1304320658 Aug 21, 2014 (142)
72 DDI ss1429444162 Apr 01, 2015 (144)
73 EVA_GENOME_DK ss1579995533 Apr 01, 2015 (144)
74 EVA_DECODE ss1588147619 Apr 01, 2015 (144)
75 EVA_UK10K_ALSPAC ss1607241106 Apr 01, 2015 (144)
76 EVA_UK10K_TWINSUK ss1650235139 Apr 01, 2015 (144)
77 EVA_SVP ss1712582345 Apr 01, 2015 (144)
78 ILLUMINA ss1752479760 Sep 08, 2015 (146)
79 HAMMER_LAB ss1799389605 Sep 08, 2015 (146)
80 WEILL_CORNELL_DGM ss1921912785 Feb 12, 2016 (147)
81 GENOMED ss1969410923 Jul 19, 2016 (147)
82 JJLAB ss2021516563 Sep 14, 2016 (149)
83 USC_VALOUEV ss2149591506 Dec 20, 2016 (150)
84 HUMAN_LONGEVITY ss2252240444 Dec 20, 2016 (150)
85 SYSTEMSBIOZJU ss2625256503 Nov 08, 2017 (151)
86 ILLUMINA ss2633960037 Nov 08, 2017 (151)
87 ILLUMINA ss2633960038 Nov 08, 2017 (151)
88 ILLUMINA ss2633960039 Nov 08, 2017 (151)
89 GRF ss2704968623 Nov 08, 2017 (151)
90 ILLUMINA ss2710974693 Nov 08, 2017 (151)
91 GNOMAD ss2793861866 Nov 08, 2017 (151)
92 AFFY ss2985260181 Nov 08, 2017 (151)
93 SWEGEN ss2992441087 Nov 08, 2017 (151)
94 ILLUMINA ss3022248512 Nov 08, 2017 (151)
95 BIOINF_KMB_FNS_UNIBA ss3024521406 Nov 08, 2017 (151)
96 CSHL ss3345055089 Nov 08, 2017 (151)
97 ILLUMINA ss3628680412 Oct 12, 2018 (152)
98 ILLUMINA ss3631905603 Oct 12, 2018 (152)
99 ILLUMINA ss3633295159 Oct 12, 2018 (152)
100 ILLUMINA ss3634012322 Oct 12, 2018 (152)
101 ILLUMINA ss3634899713 Oct 12, 2018 (152)
102 ILLUMINA ss3635696205 Oct 12, 2018 (152)
103 ILLUMINA ss3636594993 Oct 12, 2018 (152)
104 ILLUMINA ss3637448585 Oct 12, 2018 (152)
105 ILLUMINA ss3638420008 Oct 12, 2018 (152)
106 ILLUMINA ss3639212894 Oct 12, 2018 (152)
107 ILLUMINA ss3639624537 Oct 12, 2018 (152)
108 ILLUMINA ss3640607014 Oct 12, 2018 (152)
109 ILLUMINA ss3643376639 Oct 12, 2018 (152)
110 URBANLAB ss3647420346 Oct 12, 2018 (152)
111 ILLUMINA ss3652724724 Oct 12, 2018 (152)
112 ILLUMINA ss3654028664 Oct 12, 2018 (152)
113 EGCUT_WGS ss3660368442 Jul 13, 2019 (153)
114 EVA_DECODE ss3709387299 Jul 13, 2019 (153)
115 ILLUMINA ss3726023806 Jul 13, 2019 (153)
116 ACPOP ss3729954134 Jul 13, 2019 (153)
117 ILLUMINA ss3744512242 Jul 13, 2019 (153)
118 ILLUMINA ss3745199686 Jul 13, 2019 (153)
119 EVA ss3760130887 Jul 13, 2019 (153)
120 ILLUMINA ss3772695101 Jul 13, 2019 (153)
121 PACBIO ss3784335566 Jul 13, 2019 (153)
122 PACBIO ss3789847994 Jul 13, 2019 (153)
123 PACBIO ss3794722033 Jul 13, 2019 (153)
124 KHV_HUMAN_GENOMES ss3803264403 Jul 13, 2019 (153)
125 EVA ss3827849141 Apr 25, 2020 (154)
126 EVA ss3837348213 Apr 25, 2020 (154)
127 EVA ss3842774269 Apr 25, 2020 (154)
128 HGDP ss3847710550 Apr 25, 2020 (154)
129 SGDP_PRJ ss3856009599 Apr 25, 2020 (154)
130 KRGDB ss3901881048 Apr 25, 2020 (154)
131 KOGIC ss3951425540 Apr 25, 2020 (154)
132 EVA ss3984509003 Apr 27, 2021 (155)
133 EVA ss3984996682 Apr 27, 2021 (155)
134 EVA ss4017085484 Apr 27, 2021 (155)
135 TOPMED ss4567447631 Apr 27, 2021 (155)
136 TOMMO_GENOMICS ss5159518447 Apr 27, 2021 (155)
137 1000G_HIGH_COVERAGE ss5254362635 Oct 12, 2022 (156)
138 EVA ss5314862721 Oct 12, 2022 (156)
139 EVA ss5340323235 Oct 12, 2022 (156)
140 HUGCELL_USP ss5453722463 Oct 12, 2022 (156)
141 1000G_HIGH_COVERAGE ss5532871341 Oct 12, 2022 (156)
142 SANFORD_IMAGENETICS ss5624520600 Oct 12, 2022 (156)
143 SANFORD_IMAGENETICS ss5632284333 Oct 12, 2022 (156)
144 TOMMO_GENOMICS ss5691287792 Oct 12, 2022 (156)
145 EVA ss5799580888 Oct 12, 2022 (156)
146 YY_MCH ss5803805483 Oct 12, 2022 (156)
147 EVA ss5825864101 Oct 12, 2022 (156)
148 EVA ss5853643275 Oct 12, 2022 (156)
149 EVA ss5869154967 Oct 12, 2022 (156)
150 EVA ss5960586362 Oct 12, 2022 (156)
151 EVA ss5980151287 Oct 12, 2022 (156)
152 1000Genomes NC_000003.11 - 64078009 Oct 12, 2018 (152)
153 1000Genomes_30x NC_000003.12 - 64092333 Oct 12, 2022 (156)
154 The Avon Longitudinal Study of Parents and Children NC_000003.11 - 64078009 Oct 12, 2018 (152)
155 Genetic variation in the Estonian population NC_000003.11 - 64078009 Oct 12, 2018 (152)
156 The Danish reference pan genome NC_000003.11 - 64078009 Apr 25, 2020 (154)
157 gnomAD - Genomes NC_000003.12 - 64092333 Apr 27, 2021 (155)
158 Genome of the Netherlands Release 5 NC_000003.11 - 64078009 Apr 25, 2020 (154)
159 HGDP-CEPH-db Supplement 1 NC_000003.10 - 64053049 Apr 25, 2020 (154)
160 HapMap NC_000003.12 - 64092333 Apr 25, 2020 (154)
161 KOREAN population from KRGDB NC_000003.11 - 64078009 Apr 25, 2020 (154)
162 Korean Genome Project NC_000003.12 - 64092333 Apr 25, 2020 (154)
163 Northern Sweden NC_000003.11 - 64078009 Jul 13, 2019 (153)
164 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000003.11 - 64078009 Apr 27, 2021 (155)
165 CNV burdens in cranial meningiomas NC_000003.11 - 64078009 Apr 27, 2021 (155)
166 Qatari NC_000003.11 - 64078009 Apr 25, 2020 (154)
167 SGDP_PRJ NC_000003.11 - 64078009 Apr 25, 2020 (154)
168 Siberian NC_000003.11 - 64078009 Apr 25, 2020 (154)
169 8.3KJPN NC_000003.11 - 64078009 Apr 27, 2021 (155)
170 14KJPN NC_000003.12 - 64092333 Oct 12, 2022 (156)
171 TopMed NC_000003.12 - 64092333 Apr 27, 2021 (155)
172 UK 10K study - Twins NC_000003.11 - 64078009 Oct 12, 2018 (152)
173 A Vietnamese Genetic Variation Database NC_000003.11 - 64078009 Jul 13, 2019 (153)
174 ALFA NC_000003.12 - 64092333 Apr 27, 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)
rs56897911 May 23, 2008 (130)
rs386536287 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
9058442, ss3901881048 NC_000003.11:64078008:C:G NC_000003.12:64092332:C:G (self)
ss83579866, ss84047385, ss3639212894, ss3639624537 NC_000003.9:64053048:C:T NC_000003.12:64092332:C:T (self)
388442, ss92116166, ss110265635, ss111833060, ss117110476, ss162207185, ss163486146, ss166657856, ss202624630, ss206020830, ss253142337, ss277155057, ss292811157, ss480021754, ss825410207, ss1588147619, ss1712582345, ss3643376639, ss3847710550 NC_000003.10:64053048:C:T NC_000003.12:64092332:C:T (self)
15519238, 8637085, 6106690, 6160472, 3788181, 9058442, 3238999, 222609, 58350, 3954715, 8026579, 2107860, 17487754, 8637085, 1875330, ss220179700, ss231851971, ss239259063, ss480030521, ss480692573, ss484809050, ss491341959, ss536889672, ss556665702, ss650345820, ss778437416, ss782851092, ss783815630, ss832104970, ss832794157, ss833892929, ss978675261, ss1070470501, ss1304320658, ss1429444162, ss1579995533, ss1607241106, ss1650235139, ss1752479760, ss1799389605, ss1921912785, ss1969410923, ss2021516563, ss2149591506, ss2625256503, ss2633960037, ss2633960038, ss2633960039, ss2704968623, ss2710974693, ss2793861866, ss2985260181, ss2992441087, ss3022248512, ss3345055089, ss3628680412, ss3631905603, ss3633295159, ss3634012322, ss3634899713, ss3635696205, ss3636594993, ss3637448585, ss3638420008, ss3640607014, ss3652724724, ss3654028664, ss3660368442, ss3729954134, ss3744512242, ss3745199686, ss3760130887, ss3772695101, ss3784335566, ss3789847994, ss3794722033, ss3827849141, ss3837348213, ss3856009599, ss3901881048, ss3984509003, ss3984996682, ss4017085484, ss5159518447, ss5314862721, ss5340323235, ss5624520600, ss5632284333, ss5799580888, ss5825864101, ss5960586362, ss5980151287 NC_000003.11:64078008:C:T NC_000003.12:64092332:C:T (self)
20397276, 110136208, 2375473, 7803541, 25124896, 404825186, 8680538861, ss2252240444, ss3024521406, ss3647420346, ss3709387299, ss3726023806, ss3803264403, ss3842774269, ss3951425540, ss4567447631, ss5254362635, ss5453722463, ss5532871341, ss5691287792, ss5803805483, ss5853643275, ss5869154967 NC_000003.12:64092332:C:T NC_000003.12:64092332:C:T (self)
ss10099059 NT_005999.15:13015869:C:T NC_000003.12:64092332:C:T (self)
ss22018571 NT_022517.16:64000346:C:T NC_000003.12:64092332:C:T (self)
ss321510, ss331366, ss1141300, ss1141920, ss1787629, ss1787800, ss2154042, ss3253545, ss3606747, ss23910531, ss44419208, ss66147290, ss66830505, ss67127834, ss67467093, ss70441223, ss70629848, ss71179738, ss75883690, ss76171866, ss83369259, ss99098273, ss103944443, ss121741030, ss135280123, ss138904595, ss153499707, ss155570394, ss159282020, ss160368793, ss170621588, ss172565847, ss172705960, ss469414423 NT_022517.18:64018008:C:T NC_000003.12:64092332: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.

3 citations for rs153734
PMID Title Author Year Journal
19303062 Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. Tanaka T et al. 2009 American journal of human genetics
19744961 Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway. Hazra A et al. 2009 Human molecular genetics
27901035 Homocysteine-reducing B vitamins and ischemic heart disease: a separate-sample Mendelian randomization analysis. Zhao JV et al. 2017 European journal of clinical nutrition
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