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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.

rs1472147

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:128863489 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.227005 (68354/301112, ALFA)
C=0.345823 (91536/264690, TOPMED)
C=0.225468 (46238/205076, GENOGRAPHIC) (+ 22 more)
C=0.337445 (47218/139928, GnomAD)
C=0.43503 (34211/78640, PAGE_STUDY)
C=0.46893 (13251/28258, 14KJPN)
C=0.47136 (7899/16758, 8.3KJPN)
C=0.4160 (2664/6404, 1000G_30x)
C=0.4153 (2080/5008, 1000G)
C=0.2600 (1165/4480, Estonian)
C=0.2143 (826/3854, ALSPAC)
C=0.2085 (773/3708, TWINSUK)
C=0.4529 (1327/2930, KOREAN)
C=0.3362 (700/2082, HGDP_Stanford)
C=0.4299 (809/1882, HapMap)
C=0.4536 (831/1832, Korea1K)
C=0.209 (209/998, GoNL)
T=0.492 (388/788, PRJEB37584)
C=0.240 (144/600, NorthernSweden)
T=0.332 (99/298, SGDP_PRJ)
C=0.269 (58/216, Qatari)
C=0.431 (93/216, Vietnamese)
C=0.059 (6/102, Ancient Sardinia)
C=0.23 (9/40, GENOME_DK)
T=0.41 (13/32, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ATP6V1F : Intron Variant
FLNC-AS1 : 2KB Upstream Variant
Publications
0 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 301112 T=0.772995 C=0.227005
European Sub 264140 T=0.793715 C=0.206285
African Sub 10590 T=0.38980 C=0.61020
African Others Sub 402 T=0.294 C=0.706
African American Sub 10188 T=0.39360 C=0.60640
Asian Sub 3906 T=0.5740 C=0.4260
East Asian Sub 3160 T=0.5453 C=0.4547
Other Asian Sub 746 T=0.696 C=0.304
Latin American 1 Sub 1132 T=0.7359 C=0.2641
Latin American 2 Sub 7214 T=0.7749 C=0.2251
South Asian Sub 5222 T=0.7022 C=0.2978
Other Sub 8908 T=0.7461 C=0.2539


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 301112 T=0.772995 C=0.227005
Allele Frequency Aggregator European Sub 264140 T=0.793715 C=0.206285
Allele Frequency Aggregator African Sub 10590 T=0.38980 C=0.61020
Allele Frequency Aggregator Other Sub 8908 T=0.7461 C=0.2539
Allele Frequency Aggregator Latin American 2 Sub 7214 T=0.7749 C=0.2251
Allele Frequency Aggregator South Asian Sub 5222 T=0.7022 C=0.2978
Allele Frequency Aggregator Asian Sub 3906 T=0.5740 C=0.4260
Allele Frequency Aggregator Latin American 1 Sub 1132 T=0.7359 C=0.2641
TopMed Global Study-wide 264690 T=0.654177 C=0.345823
Genographic Project Global Study-wide 205076 T=0.774532 C=0.225468
gnomAD - Genomes Global Study-wide 139928 T=0.662555 C=0.337445
gnomAD - Genomes European Sub 75822 T=0.78597 C=0.21403
gnomAD - Genomes African Sub 41878 T=0.39157 C=0.60843
gnomAD - Genomes American Sub 13642 T=0.79241 C=0.20759
gnomAD - Genomes Ashkenazi Jewish Sub 3318 T=0.8427 C=0.1573
gnomAD - Genomes East Asian Sub 3128 T=0.5358 C=0.4642
gnomAD - Genomes Other Sub 2140 T=0.6710 C=0.3290
The PAGE Study Global Study-wide 78640 T=0.56497 C=0.43503
The PAGE Study AfricanAmerican Sub 32486 T=0.40488 C=0.59512
The PAGE Study Mexican Sub 10806 T=0.77226 C=0.22774
The PAGE Study Asian Sub 8312 T=0.5416 C=0.4584
The PAGE Study PuertoRican Sub 7918 T=0.6844 C=0.3156
The PAGE Study NativeHawaiian Sub 4528 T=0.6082 C=0.3918
The PAGE Study Cuban Sub 4228 T=0.7311 C=0.2689
The PAGE Study Dominican Sub 3820 T=0.5969 C=0.4031
The PAGE Study CentralAmerican Sub 2448 T=0.7594 C=0.2406
The PAGE Study SouthAmerican Sub 1982 T=0.7740 C=0.2260
The PAGE Study NativeAmerican Sub 1258 T=0.7409 C=0.2591
The PAGE Study SouthAsian Sub 854 T=0.656 C=0.344
14KJPN JAPANESE Study-wide 28258 T=0.53107 C=0.46893
8.3KJPN JAPANESE Study-wide 16758 T=0.52864 C=0.47136
1000Genomes_30x Global Study-wide 6404 T=0.5840 C=0.4160
1000Genomes_30x African Sub 1786 T=0.3343 C=0.6657
1000Genomes_30x Europe Sub 1266 T=0.8002 C=0.1998
1000Genomes_30x South Asian Sub 1202 T=0.6672 C=0.3328
1000Genomes_30x East Asian Sub 1170 T=0.5120 C=0.4880
1000Genomes_30x American Sub 980 T=0.744 C=0.256
1000Genomes Global Study-wide 5008 T=0.5847 C=0.4153
1000Genomes African Sub 1322 T=0.3328 C=0.6672
1000Genomes East Asian Sub 1008 T=0.5089 C=0.4911
1000Genomes Europe Sub 1006 T=0.8022 C=0.1978
1000Genomes South Asian Sub 978 T=0.664 C=0.336
1000Genomes American Sub 694 T=0.748 C=0.252
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.7400 C=0.2600
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.7857 C=0.2143
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.7915 C=0.2085
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.5471 C=0.4529
HGDP-CEPH-db Supplement 1 Global Study-wide 2082 T=0.6638 C=0.3362
HGDP-CEPH-db Supplement 1 Est_Asia Sub 468 T=0.538 C=0.462
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.758 C=0.242
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.820 C=0.180
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.812 C=0.188
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.264 C=0.736
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.759 C=0.241
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.57 C=0.43
HapMap Global Study-wide 1882 T=0.5701 C=0.4299
HapMap American Sub 764 T=0.635 C=0.365
HapMap African Sub 688 T=0.449 C=0.551
HapMap Asian Sub 254 T=0.539 C=0.461
HapMap Europe Sub 176 T=0.807 C=0.193
Korean Genome Project KOREAN Study-wide 1832 T=0.5464 C=0.4536
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.791 C=0.209
CNV burdens in cranial meningiomas Global Study-wide 788 T=0.492 C=0.508
CNV burdens in cranial meningiomas CRM Sub 788 T=0.492 C=0.508
Northern Sweden ACPOP Study-wide 600 T=0.760 C=0.240
SGDP_PRJ Global Study-wide 298 T=0.332 C=0.668
Qatari Global Study-wide 216 T=0.731 C=0.269
A Vietnamese Genetic Variation Database Global Study-wide 216 T=0.569 C=0.431
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 102 T=0.941 C=0.059
The Danish reference pan genome Danish Study-wide 40 T=0.78 C=0.23
Siberian Global Study-wide 32 T=0.41 C=0.59
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 7 NC_000007.14:g.128863489T>C
GRCh37.p13 chr 7 NC_000007.13:g.128503543T>C
Gene: ATP6V1F, ATPase H+ transporting V1 subunit F (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ATP6V1F transcript variant 2 NM_001198909.2:c.158+427T…

NM_001198909.2:c.158+427T>C

N/A Intron Variant
ATP6V1F transcript variant 1 NM_004231.4:c.158+427T>C N/A Intron Variant
Gene: FLNC-AS1, FLNC antisense RNA 1 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
FLNC-AS1 transcript NR_149055.1:n. N/A Upstream Transcript 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 T= C
GRCh38.p14 chr 7 NC_000007.14:g.128863489= NC_000007.14:g.128863489T>C
GRCh37.p13 chr 7 NC_000007.13:g.128503543= NC_000007.13:g.128503543T>C
ATP6V1F transcript variant 2 NM_001198909.1:c.158+427= NM_001198909.1:c.158+427T>C
ATP6V1F transcript variant 2 NM_001198909.2:c.158+427= NM_001198909.2:c.158+427T>C
ATP6V1F transcript variant 1 NM_004231.3:c.158+427= NM_004231.3:c.158+427T>C
ATP6V1F transcript variant 1 NM_004231.4:c.158+427= NM_004231.4:c.158+427T>C
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#.

136 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2293131 Oct 23, 2000 (88)
2 SC_JCM ss6205110 Feb 20, 2003 (111)
3 CSHL-HAPMAP ss17941070 Feb 27, 2004 (120)
4 SSAHASNP ss22560831 Apr 05, 2004 (121)
5 ABI ss44779563 Mar 15, 2006 (126)
6 ILLUMINA ss65775330 Oct 16, 2006 (127)
7 ILLUMINA ss66829986 Dec 01, 2006 (127)
8 ILLUMINA ss67112568 Dec 01, 2006 (127)
9 ILLUMINA ss67449581 Dec 01, 2006 (127)
10 ILLUMINA ss70435479 May 17, 2007 (127)
11 ILLUMINA ss70622154 May 26, 2008 (130)
12 ILLUMINA ss71170980 May 17, 2007 (127)
13 ILLUMINA ss75898474 Dec 07, 2007 (129)
14 KRIBB_YJKIM ss83790745 Dec 16, 2007 (130)
15 HGSV ss84308693 Dec 16, 2007 (130)
16 BCMHGSC_JDW ss93764819 Mar 25, 2008 (129)
17 BGI ss105572496 Feb 06, 2009 (130)
18 1000GENOMES ss112526499 Jan 25, 2009 (130)
19 1000GENOMES ss114420827 Jan 25, 2009 (130)
20 ILLUMINA-UK ss116305823 Feb 14, 2009 (130)
21 ILLUMINA ss121712177 Dec 01, 2009 (131)
22 ENSEMBL ss139631994 Dec 01, 2009 (131)
23 ENSEMBL ss142923295 Dec 01, 2009 (131)
24 ILLUMINA ss153458460 Dec 01, 2009 (131)
25 GMI ss155487540 Dec 01, 2009 (131)
26 ILLUMINA ss159274101 Dec 01, 2009 (131)
27 ILLUMINA ss160358691 Dec 01, 2009 (131)
28 COMPLETE_GENOMICS ss162710088 Jul 04, 2010 (132)
29 COMPLETE_GENOMICS ss165384510 Jul 04, 2010 (132)
30 COMPLETE_GENOMICS ss167103197 Jul 04, 2010 (132)
31 ILLUMINA ss170548539 Jul 04, 2010 (132)
32 ILLUMINA ss172527853 Jul 04, 2010 (132)
33 BUSHMAN ss198261551 Jul 04, 2010 (132)
34 BCM-HGSC-SUB ss208156308 Jul 04, 2010 (132)
35 1000GENOMES ss223328921 Jul 14, 2010 (132)
36 1000GENOMES ss234165262 Jul 15, 2010 (132)
37 1000GENOMES ss241079315 Jul 15, 2010 (132)
38 GMI ss279528999 May 04, 2012 (137)
39 PJP ss293964903 May 09, 2011 (134)
40 ILLUMINA ss479990897 May 04, 2012 (137)
41 ILLUMINA ss479999583 May 04, 2012 (137)
42 ILLUMINA ss480652481 Sep 08, 2015 (146)
43 ILLUMINA ss484793589 May 04, 2012 (137)
44 ILLUMINA ss536877711 Sep 08, 2015 (146)
45 TISHKOFF ss560301138 Apr 25, 2013 (138)
46 SSMP ss654710598 Apr 25, 2013 (138)
47 ILLUMINA ss778434050 Aug 21, 2014 (142)
48 ILLUMINA ss782843450 Sep 08, 2015 (146)
49 ILLUMINA ss783808088 Aug 21, 2014 (142)
50 ILLUMINA ss825404753 Apr 01, 2015 (144)
51 ILLUMINA ss832097210 Sep 08, 2015 (146)
52 ILLUMINA ss832786264 Jul 13, 2019 (153)
53 ILLUMINA ss833889535 Aug 21, 2014 (142)
54 EVA-GONL ss984794704 Aug 21, 2014 (142)
55 JMKIDD_LAB ss1074979111 Aug 21, 2014 (142)
56 1000GENOMES ss1327127507 Aug 21, 2014 (142)
57 DDI ss1431278411 Apr 01, 2015 (144)
58 EVA_GENOME_DK ss1582400204 Apr 01, 2015 (144)
59 EVA_DECODE ss1594383315 Apr 01, 2015 (144)
60 EVA_UK10K_ALSPAC ss1619209420 Apr 01, 2015 (144)
61 EVA_UK10K_TWINSUK ss1662203453 Apr 01, 2015 (144)
62 EVA_SVP ss1712987087 Apr 01, 2015 (144)
63 ILLUMINA ss1752663574 Sep 08, 2015 (146)
64 HAMMER_LAB ss1805217530 Sep 08, 2015 (146)
65 WEILL_CORNELL_DGM ss1928052780 Feb 12, 2016 (147)
66 ILLUMINA ss1946220530 Feb 12, 2016 (147)
67 ILLUMINA ss1959050660 Feb 12, 2016 (147)
68 GENOMED ss1970815918 Jul 19, 2016 (147)
69 JJLAB ss2024714479 Sep 14, 2016 (149)
70 USC_VALOUEV ss2152935351 Dec 20, 2016 (150)
71 HUMAN_LONGEVITY ss2297835319 Dec 20, 2016 (150)
72 SYSTEMSBIOZJU ss2626844818 Nov 08, 2017 (151)
73 ILLUMINA ss2634659326 Nov 08, 2017 (151)
74 GRF ss2708653870 Nov 08, 2017 (151)
75 ILLUMINA ss2711121133 Nov 08, 2017 (151)
76 GNOMAD ss2859085658 Nov 08, 2017 (151)
77 AFFY ss2985420160 Nov 08, 2017 (151)
78 SWEGEN ss3002029189 Nov 08, 2017 (151)
79 ILLUMINA ss3022778676 Nov 08, 2017 (151)
80 BIOINF_KMB_FNS_UNIBA ss3026146189 Nov 08, 2017 (151)
81 CSHL ss3347842097 Nov 08, 2017 (151)
82 ILLUMINA ss3625938274 Oct 12, 2018 (152)
83 ILLUMINA ss3629912684 Oct 12, 2018 (152)
84 ILLUMINA ss3632563635 Oct 12, 2018 (152)
85 ILLUMINA ss3633477718 Oct 12, 2018 (152)
86 ILLUMINA ss3634203358 Oct 12, 2018 (152)
87 ILLUMINA ss3635141292 Oct 12, 2018 (152)
88 ILLUMINA ss3635882777 Oct 12, 2018 (152)
89 ILLUMINA ss3636875801 Oct 12, 2018 (152)
90 ILLUMINA ss3637635821 Oct 12, 2018 (152)
91 ILLUMINA ss3638723491 Oct 12, 2018 (152)
92 ILLUMINA ss3639363019 Oct 12, 2018 (152)
93 ILLUMINA ss3639710377 Oct 12, 2018 (152)
94 ILLUMINA ss3640848583 Oct 12, 2018 (152)
95 ILLUMINA ss3643657321 Oct 12, 2018 (152)
96 ILLUMINA ss3644953685 Oct 12, 2018 (152)
97 URBANLAB ss3648751396 Oct 12, 2018 (152)
98 ILLUMINA ss3653313768 Oct 12, 2018 (152)
99 EGCUT_WGS ss3669785545 Jul 13, 2019 (153)
100 EVA_DECODE ss3720685935 Jul 13, 2019 (153)
101 ILLUMINA ss3726481261 Jul 13, 2019 (153)
102 ACPOP ss3735068965 Jul 13, 2019 (153)
103 ILLUMINA ss3744296290 Jul 13, 2019 (153)
104 ILLUMINA ss3745441287 Jul 13, 2019 (153)
105 EVA ss3767157249 Jul 13, 2019 (153)
106 PAGE_CC ss3771398206 Jul 13, 2019 (153)
107 ILLUMINA ss3772934026 Jul 13, 2019 (153)
108 KHV_HUMAN_GENOMES ss3810327415 Jul 13, 2019 (153)
109 EVA ss3830818371 Apr 26, 2020 (154)
110 EVA ss3838908156 Apr 26, 2020 (154)
111 EVA ss3844364571 Apr 26, 2020 (154)
112 HGDP ss3847890756 Apr 26, 2020 (154)
113 SGDP_PRJ ss3868393282 Apr 26, 2020 (154)
114 KRGDB ss3915739264 Apr 26, 2020 (154)
115 KOGIC ss3962573841 Apr 26, 2020 (154)
116 EVA ss3984595087 Apr 26, 2021 (155)
117 EVA ss3985321330 Apr 26, 2021 (155)
118 EVA ss4017358950 Apr 26, 2021 (155)
119 TOPMED ss4763693459 Apr 26, 2021 (155)
120 TOMMO_GENOMICS ss5185571988 Apr 26, 2021 (155)
121 1000G_HIGH_COVERAGE ss5274730386 Oct 14, 2022 (156)
122 GENOGRAPHIC ss5314523239 Oct 14, 2022 (156)
123 EVA ss5315278395 Oct 14, 2022 (156)
124 EVA ss5376767992 Oct 14, 2022 (156)
125 HUGCELL_USP ss5471616975 Oct 14, 2022 (156)
126 EVA ss5509138249 Oct 14, 2022 (156)
127 1000G_HIGH_COVERAGE ss5563886830 Oct 14, 2022 (156)
128 SANFORD_IMAGENETICS ss5643984061 Oct 14, 2022 (156)
129 TOMMO_GENOMICS ss5726560169 Oct 14, 2022 (156)
130 EVA ss5799736741 Oct 14, 2022 (156)
131 YY_MCH ss5809091078 Oct 14, 2022 (156)
132 EVA ss5823522380 Oct 14, 2022 (156)
133 EVA ss5848153640 Oct 14, 2022 (156)
134 EVA ss5856095782 Oct 14, 2022 (156)
135 EVA ss5860875024 Oct 14, 2022 (156)
136 EVA ss5973181346 Oct 14, 2022 (156)
137 1000Genomes NC_000007.13 - 128503543 Oct 12, 2018 (152)
138 1000Genomes_30x NC_000007.14 - 128863489 Oct 14, 2022 (156)
139 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 128503543 Oct 12, 2018 (152)
140 Genetic variation in the Estonian population NC_000007.13 - 128503543 Oct 12, 2018 (152)
141 Genographic Project NC_000007.14 - 128863489 Oct 14, 2022 (156)
142 The Danish reference pan genome NC_000007.13 - 128503543 Apr 26, 2020 (154)
143 gnomAD - Genomes NC_000007.14 - 128863489 Apr 26, 2021 (155)
144 Genome of the Netherlands Release 5 NC_000007.13 - 128503543 Apr 26, 2020 (154)
145 HGDP-CEPH-db Supplement 1 NC_000007.12 - 128290779 Apr 26, 2020 (154)
146 HapMap NC_000007.14 - 128863489 Apr 26, 2020 (154)
147 KOREAN population from KRGDB NC_000007.13 - 128503543 Apr 26, 2020 (154)
148 Korean Genome Project NC_000007.14 - 128863489 Apr 26, 2020 (154)
149 Northern Sweden NC_000007.13 - 128503543 Jul 13, 2019 (153)
150 The PAGE Study NC_000007.14 - 128863489 Jul 13, 2019 (153)
151 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000007.13 - 128503543 Apr 26, 2021 (155)
152 CNV burdens in cranial meningiomas NC_000007.13 - 128503543 Apr 26, 2021 (155)
153 Qatari NC_000007.13 - 128503543 Apr 26, 2020 (154)
154 SGDP_PRJ NC_000007.13 - 128503543 Apr 26, 2020 (154)
155 Siberian NC_000007.13 - 128503543 Apr 26, 2020 (154)
156 8.3KJPN NC_000007.13 - 128503543 Apr 26, 2021 (155)
157 14KJPN NC_000007.14 - 128863489 Oct 14, 2022 (156)
158 TopMed NC_000007.14 - 128863489 Apr 26, 2021 (155)
159 UK 10K study - Twins NC_000007.13 - 128503543 Oct 12, 2018 (152)
160 A Vietnamese Genetic Variation Database NC_000007.13 - 128503543 Jul 13, 2019 (153)
161 ALFA NC_000007.14 - 128863489 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)
rs61111502 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss84308693, ss3639363019, ss3639710377 NC_000007.11:128097493:T:C NC_000007.14:128863488:T:C (self)
568648, ss93764819, ss112526499, ss114420827, ss116305823, ss160358691, ss162710088, ss165384510, ss167103197, ss198261551, ss208156308, ss279528999, ss293964903, ss479990897, ss825404753, ss1594383315, ss1712987087, ss3643657321, ss3847890756 NC_000007.12:128290778:T:C NC_000007.14:128863488:T:C (self)
39170904, 21793282, 15523793, 8565142, 9725504, 22916658, 8353830, 547257, 144518, 10094710, 20410262, 5451705, 43541295, 21793282, 4855545, ss223328921, ss234165262, ss241079315, ss479999583, ss480652481, ss484793589, ss536877711, ss560301138, ss654710598, ss778434050, ss782843450, ss783808088, ss832097210, ss832786264, ss833889535, ss984794704, ss1074979111, ss1327127507, ss1431278411, ss1582400204, ss1619209420, ss1662203453, ss1752663574, ss1805217530, ss1928052780, ss1946220530, ss1959050660, ss1970815918, ss2024714479, ss2152935351, ss2626844818, ss2634659326, ss2708653870, ss2711121133, ss2859085658, ss2985420160, ss3002029189, ss3022778676, ss3347842097, ss3625938274, ss3629912684, ss3632563635, ss3633477718, ss3634203358, ss3635141292, ss3635882777, ss3636875801, ss3637635821, ss3638723491, ss3640848583, ss3644953685, ss3653313768, ss3669785545, ss3735068965, ss3744296290, ss3745441287, ss3767157249, ss3772934026, ss3830818371, ss3838908156, ss3868393282, ss3915739264, ss3984595087, ss3985321330, ss4017358950, ss5185571988, ss5315278395, ss5376767992, ss5509138249, ss5643984061, ss5799736741, ss5823522380, ss5848153640, ss5973181346 NC_000007.13:128503542:T:C NC_000007.14:128863488:T:C (self)
51412765, 2894, 276591781, 3493170, 18951842, 619675, 60397273, 601071018, 1764982682, ss2297835319, ss3026146189, ss3648751396, ss3720685935, ss3726481261, ss3771398206, ss3810327415, ss3844364571, ss3962573841, ss4763693459, ss5274730386, ss5314523239, ss5471616975, ss5563886830, ss5726560169, ss5809091078, ss5856095782, ss5860875024 NC_000007.14:128863488:T:C NC_000007.14:128863488:T:C (self)
ss17941070, ss22560831 NT_007933.13:53679691:T:C NC_000007.14:128863488:T:C (self)
ss2293131, ss6205110, ss44779563, ss65775330, ss66829986, ss67112568, ss67449581, ss70435479, ss70622154, ss71170980, ss75898474, ss83790745, ss105572496, ss121712177, ss139631994, ss142923295, ss153458460, ss155487540, ss159274101, ss170548539, ss172527853 NT_007933.15:66536385:T:C NC_000007.14:128863488:T:C (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 rs1472147

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