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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.

rs8559

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:28237741 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.363535 (113631/312572, ALFA)
G=0.446126 (118085/264690, TOPMED)
G=0.334837 (83219/248536, GnomAD_exome) (+ 24 more)
G=0.447799 (62716/140054, GnomAD)
G=0.347600 (41208/118550, ExAC)
G=0.44993 (35408/78696, PAGE_STUDY)
G=0.10173 (1705/16760, 8.3KJPN)
G=0.46755 (6081/13006, GO-ESP)
G=0.3738 (1872/5008, 1000G)
G=0.3542 (1587/4480, Estonian)
G=0.3446 (1328/3854, ALSPAC)
G=0.3703 (1373/3708, TWINSUK)
G=0.0969 (283/2922, KOREAN)
G=0.3263 (680/2084, HGDP_Stanford)
G=0.4493 (850/1892, HapMap)
G=0.0988 (181/1832, Korea1K)
G=0.337 (336/998, GoNL)
G=0.120 (93/774, PRJEB37584)
G=0.101 (62/615, Vietnamese)
G=0.395 (237/600, NorthernSweden)
G=0.322 (172/534, MGP)
G=0.368 (112/304, FINRISK)
A=0.379 (107/282, SGDP_PRJ)
G=0.468 (101/216, Qatari)
G=0.29 (24/82, Ancient Sardinia)
G=0.28 (11/40, GENOME_DK)
A=0.43 (12/28, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ATP5IF1 : Intron Variant
Publications
3 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.28237741A>C
GRCh38.p13 chr 1 NC_000001.11:g.28237741A>G
GRCh37.p13 chr 1 NC_000001.10:g.28564252A>C
GRCh37.p13 chr 1 NC_000001.10:g.28564252A>G
chr 1 novel patch HSCHR1_8_CTG3 NW_018654706.1:g.31385A>C
chr 1 novel patch HSCHR1_8_CTG3 NW_018654706.1:g.31385A>G
Gene: ATP5IF1, ATP synthase inhibitory factor subunit 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ATP5IF1 transcript variant 1 NM_016311.5:c.180-96A>C N/A Intron Variant
ATP5IF1 transcript variant 2 NM_178190.3:c.180-20A>C N/A Intron Variant
ATP5IF1 transcript variant 3 NM_178191.3:c.*1285= N/A 3 Prime UTR 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 312572 A=0.636465 C=0.000000, G=0.363535
European Sub 275184 A=0.638496 C=0.000000, G=0.361504
African Sub 8524 A=0.3451 C=0.0000, G=0.6549
African Others Sub 302 A=0.238 C=0.000, G=0.762
African American Sub 8222 A=0.3491 C=0.0000, G=0.6509
Asian Sub 3988 A=0.8909 C=0.0000, G=0.1091
East Asian Sub 3212 A=0.8998 C=0.0000, G=0.1002
Other Asian Sub 776 A=0.854 C=0.000, G=0.146
Latin American 1 Sub 1132 A=0.5318 C=0.0000, G=0.4682
Latin American 2 Sub 7212 A=0.7264 C=0.0000, G=0.2736
South Asian Sub 5224 A=0.7265 C=0.0000, G=0.2735
Other Sub 11308 A=0.62840 C=0.00000, G=0.37160


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").

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Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 312572 A=0.636465 C=0.000000, G=0.363535
Allele Frequency Aggregator European Sub 275184 A=0.638496 C=0.000000, G=0.361504
Allele Frequency Aggregator Other Sub 11308 A=0.62840 C=0.00000, G=0.37160
Allele Frequency Aggregator African Sub 8524 A=0.3451 C=0.0000, G=0.6549
Allele Frequency Aggregator Latin American 2 Sub 7212 A=0.7264 C=0.0000, G=0.2736
Allele Frequency Aggregator South Asian Sub 5224 A=0.7265 C=0.0000, G=0.2735
Allele Frequency Aggregator Asian Sub 3988 A=0.8909 C=0.0000, G=0.1091
Allele Frequency Aggregator Latin American 1 Sub 1132 A=0.5318 C=0.0000, G=0.4682
TopMed Global Study-wide 264690 A=0.553874 G=0.446126
gnomAD - Exomes Global Study-wide 248536 A=0.665163 G=0.334837
gnomAD - Exomes European Sub 133222 A=0.644676 G=0.355324
gnomAD - Exomes Asian Sub 48806 A=0.80345 G=0.19655
gnomAD - Exomes American Sub 34288 A=0.73431 G=0.26569
gnomAD - Exomes African Sub 16080 A=0.31213 G=0.68787
gnomAD - Exomes Ashkenazi Jewish Sub 10034 A=0.60504 G=0.39496
gnomAD - Exomes Other Sub 6106 A=0.6471 G=0.3529
gnomAD - Genomes Global Study-wide 140054 A=0.552201 G=0.447799
gnomAD - Genomes European Sub 75854 A=0.64297 G=0.35703
gnomAD - Genomes African Sub 41958 A=0.32273 G=0.67727
gnomAD - Genomes American Sub 13638 A=0.65743 G=0.34257
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.5957 G=0.4043
gnomAD - Genomes East Asian Sub 3130 A=0.9016 G=0.0984
gnomAD - Genomes Other Sub 2150 A=0.5847 G=0.4153
ExAC Global Study-wide 118550 A=0.652400 G=0.347600
ExAC Europe Sub 71482 A=0.63699 G=0.36301
ExAC Asian Sub 24732 A=0.79500 G=0.20500
ExAC American Sub 11192 A=0.74812 G=0.25188
ExAC African Sub 10256 A=0.31289 G=0.68711
ExAC Other Sub 888 A=0.636 G=0.364
The PAGE Study Global Study-wide 78696 A=0.55007 G=0.44993
The PAGE Study AfricanAmerican Sub 32514 A=0.33333 G=0.66667
The PAGE Study Mexican Sub 10808 A=0.72964 G=0.27036
The PAGE Study Asian Sub 8318 A=0.9035 G=0.0965
The PAGE Study PuertoRican Sub 7918 A=0.5852 G=0.4148
The PAGE Study NativeHawaiian Sub 4534 A=0.8472 G=0.1528
The PAGE Study Cuban Sub 4228 A=0.5866 G=0.4134
The PAGE Study Dominican Sub 3828 A=0.4592 G=0.5408
The PAGE Study CentralAmerican Sub 2450 A=0.6249 G=0.3751
The PAGE Study SouthAmerican Sub 1982 A=0.6791 G=0.3209
The PAGE Study NativeAmerican Sub 1260 A=0.6262 G=0.3738
The PAGE Study SouthAsian Sub 856 A=0.783 G=0.217
8.3KJPN JAPANESE Study-wide 16760 A=0.89827 G=0.10173
GO Exome Sequencing Project Global Study-wide 13006 A=0.53245 G=0.46755
GO Exome Sequencing Project European American Sub 8600 A=0.6415 G=0.3585
GO Exome Sequencing Project African American Sub 4406 A=0.3196 G=0.6804
1000Genomes Global Study-wide 5008 A=0.6262 G=0.3738
1000Genomes African Sub 1322 A=0.2579 G=0.7421
1000Genomes East Asian Sub 1008 A=0.9008 G=0.0992
1000Genomes Europe Sub 1006 A=0.6312 G=0.3688
1000Genomes South Asian Sub 978 A=0.778 G=0.222
1000Genomes American Sub 694 A=0.707 G=0.293
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.6458 G=0.3542
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.6554 G=0.3446
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.6297 G=0.3703
KOREAN population from KRGDB KOREAN Study-wide 2922 A=0.9031 G=0.0969
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.6737 G=0.3263
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.896 G=0.104
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.715 G=0.285
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.571 G=0.429
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.622 G=0.378
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.244 G=0.756
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.819 G=0.181
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.72 G=0.28
HapMap Global Study-wide 1892 A=0.5507 G=0.4493
HapMap American Sub 770 A=0.682 G=0.318
HapMap African Sub 692 A=0.277 G=0.723
HapMap Asian Sub 254 A=0.886 G=0.114
HapMap Europe Sub 176 A=0.568 G=0.432
Korean Genome Project KOREAN Study-wide 1832 A=0.9012 G=0.0988
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.663 G=0.337
CNV burdens in cranial meningiomas Global Study-wide 774 A=0.880 G=0.120
CNV burdens in cranial meningiomas CRM Sub 774 A=0.880 G=0.120
A Vietnamese Genetic Variation Database Global Study-wide 615 A=0.899 G=0.101
Northern Sweden ACPOP Study-wide 600 A=0.605 G=0.395
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.678 G=0.322
FINRISK Finnish from FINRISK project Study-wide 304 A=0.632 G=0.368
SGDP_PRJ Global Study-wide 282 A=0.379 G=0.621
Qatari Global Study-wide 216 A=0.532 G=0.468
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 82 A=0.71 G=0.29
The Danish reference pan genome Danish Study-wide 40 A=0.72 G=0.28
Siberian Global Study-wide 28 A=0.43 G=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 A= C G
GRCh38.p13 chr 1 NC_000001.11:g.28237741= NC_000001.11:g.28237741A>C NC_000001.11:g.28237741A>G
GRCh37.p13 chr 1 NC_000001.10:g.28564252= NC_000001.10:g.28564252A>C NC_000001.10:g.28564252A>G
chr 1 novel patch HSCHR1_8_CTG3 NW_018654706.1:g.31385= NW_018654706.1:g.31385A>C NW_018654706.1:g.31385A>G
ATP5IF1 transcript variant 3 NM_178191.3:c.*1285= NM_178191.3:c.*1285A>C NM_178191.3:c.*1285A>G
ATP5IF1 transcript variant 3 NM_178191.2:c.*1285= NM_178191.2:c.*1285A>C NM_178191.2:c.*1285A>G
ATP5IF1 transcript variant 1 NM_016311.4:c.180-96= NM_016311.4:c.180-96A>C NM_016311.4:c.180-96A>G
ATP5IF1 transcript variant 1 NM_016311.5:c.180-96= NM_016311.5:c.180-96A>C NM_016311.5:c.180-96A>G
ATP5IF1 transcript variant 2 NM_178190.2:c.180-20= NM_178190.2:c.180-20A>C NM_178190.2:c.180-20A>G
ATP5IF1 transcript variant 2 NM_178190.3:c.180-20= NM_178190.3:c.180-20A>C NM_178190.3:c.180-20A>G
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#.

142 SubSNP, 27 Frequency submissions
No Submitter Submission ID Date (Build)
1 CGAP-GAI ss10555 Sep 19, 2000 (52)
2 SC_JCM ss666798 Aug 11, 2000 (83)
3 LEE ss1534831 Oct 04, 2000 (86)
4 TSC-CSHL ss2287205 Oct 23, 2000 (92)
5 GENAISSANCE ss3180068 Aug 15, 2001 (98)
6 LEE ss4397260 May 29, 2002 (106)
7 LEE ss4423483 May 29, 2002 (106)
8 WI_SSAHASNP ss6783787 Feb 20, 2003 (111)
9 SC_SNP ss13043767 Dec 05, 2003 (119)
10 PERLEGEN ss23668318 Sep 20, 2004 (123)
11 ILLUMINA ss66693942 Nov 30, 2006 (127)
12 ILLUMINA ss67881382 Nov 30, 2006 (127)
13 ILLUMINA ss68022240 Nov 30, 2006 (127)
14 ILLUMINA ss70975325 May 26, 2008 (130)
15 ILLUMINA ss71586871 May 17, 2007 (127)
16 ILLUMINA ss75568214 Dec 06, 2007 (129)
17 SI_EXO ss76883452 Dec 06, 2007 (129)
18 ILLUMINA ss79284431 Dec 16, 2007 (130)
19 KRIBB_YJKIM ss83348578 Dec 16, 2007 (130)
20 BCMHGSC_JDW ss87321117 Mar 23, 2008 (129)
21 1000GENOMES ss108081825 Jan 22, 2009 (130)
22 1000GENOMES ss110219865 Jan 24, 2009 (130)
23 ILLUMINA-UK ss118584189 Feb 14, 2009 (130)
24 ILLUMINA ss120244574 Dec 01, 2009 (131)
25 ILLUMINA ss122920477 Dec 01, 2009 (131)
26 ENSEMBL ss137859728 Dec 01, 2009 (131)
27 ILLUMINA ss154474417 Dec 01, 2009 (131)
28 ILLUMINA ss159648901 Dec 01, 2009 (131)
29 ILLUMINA ss160958610 Dec 01, 2009 (131)
30 COMPLETE_GENOMICS ss163212754 Jul 04, 2010 (132)
31 COMPLETE_GENOMICS ss164020676 Jul 04, 2010 (132)
32 COMPLETE_GENOMICS ss166282737 Jul 04, 2010 (132)
33 ILLUMINA ss172411412 Jul 04, 2010 (132)
34 ILLUMINA ss174751573 Jul 04, 2010 (132)
35 BUSHMAN ss198216614 Jul 04, 2010 (132)
36 1000GENOMES ss218297672 Jul 14, 2010 (132)
37 1000GENOMES ss230472252 Jul 14, 2010 (132)
38 1000GENOMES ss238177417 Jul 15, 2010 (132)
39 ILLUMINA ss244255266 Jul 04, 2010 (132)
40 GMI ss275763614 May 04, 2012 (137)
41 GMI ss284023970 Apr 25, 2013 (138)
42 PJP ss290795664 May 09, 2011 (134)
43 ILLUMINA ss481811105 May 04, 2012 (137)
44 ILLUMINA ss481843626 May 04, 2012 (137)
45 ILLUMINA ss482804575 Sep 08, 2015 (146)
46 ILLUMINA ss485700228 May 04, 2012 (137)
47 1000GENOMES ss489731367 May 04, 2012 (137)
48 CLINSEQ_SNP ss491590182 May 04, 2012 (137)
49 ILLUMINA ss537565887 Sep 08, 2015 (146)
50 TISHKOFF ss553924595 Apr 25, 2013 (138)
51 SSMP ss647658537 Apr 25, 2013 (138)
52 NHLBI-ESP ss712292779 Apr 25, 2013 (138)
53 ILLUMINA ss778629562 Sep 08, 2015 (146)
54 ILLUMINA ss783295674 Sep 08, 2015 (146)
55 ILLUMINA ss784248153 Sep 08, 2015 (146)
56 ILLUMINA ss825614949 Apr 01, 2015 (144)
57 ILLUMINA ss832556973 Sep 08, 2015 (146)
58 ILLUMINA ss833159722 Jul 12, 2019 (153)
59 ILLUMINA ss834087149 Sep 08, 2015 (146)
60 JMKIDD_LAB ss974434249 Aug 21, 2014 (142)
61 EVA-GONL ss974978221 Aug 21, 2014 (142)
62 JMKIDD_LAB ss1067418835 Aug 21, 2014 (142)
63 JMKIDD_LAB ss1067755934 Aug 21, 2014 (142)
64 1000GENOMES ss1290166134 Aug 21, 2014 (142)
65 DDI ss1425755571 Apr 01, 2015 (144)
66 EVA_GENOME_DK ss1573958212 Apr 01, 2015 (144)
67 EVA_FINRISK ss1584006355 Apr 01, 2015 (144)
68 EVA_DECODE ss1584337783 Apr 01, 2015 (144)
69 EVA_UK10K_ALSPAC ss1599793649 Apr 01, 2015 (144)
70 EVA_UK10K_TWINSUK ss1642787682 Apr 01, 2015 (144)
71 EVA_EXAC ss1685423254 Apr 01, 2015 (144)
72 EVA_MGP ss1710897506 Apr 01, 2015 (144)
73 EVA_SVP ss1712320074 Apr 01, 2015 (144)
74 ILLUMINA ss1751914094 Sep 08, 2015 (146)
75 HAMMER_LAB ss1794104967 Sep 08, 2015 (146)
76 WEILL_CORNELL_DGM ss1918190110 Feb 12, 2016 (147)
77 ILLUMINA ss1945989450 Feb 12, 2016 (147)
78 ILLUMINA ss1958256557 Feb 12, 2016 (147)
79 GENOMED ss1966710448 Jul 19, 2016 (147)
80 JJLAB ss2019606330 Sep 14, 2016 (149)
81 USC_VALOUEV ss2147613720 Dec 20, 2016 (150)
82 HUMAN_LONGEVITY ss2160994278 Dec 20, 2016 (150)
83 TOPMED ss2323188707 Dec 20, 2016 (150)
84 ILLUMINA ss2632493796 Nov 08, 2017 (151)
85 GRF ss2697519661 Nov 08, 2017 (151)
86 ILLUMINA ss2710668519 Nov 08, 2017 (151)
87 GNOMAD ss2731302700 Nov 08, 2017 (151)
88 GNOMAD ss2746273390 Nov 08, 2017 (151)
89 GNOMAD ss2753057557 Nov 08, 2017 (151)
90 SWEGEN ss2986520754 Nov 08, 2017 (151)
91 ILLUMINA ss3021070263 Nov 08, 2017 (151)
92 BIOINF_KMB_FNS_UNIBA ss3023568344 Nov 08, 2017 (151)
93 TOPMED ss3071835379 Nov 08, 2017 (151)
94 CSHL ss3343379827 Nov 08, 2017 (151)
95 ILLUMINA ss3625529075 Oct 11, 2018 (152)
96 ILLUMINA ss3626056175 Oct 11, 2018 (152)
97 ILLUMINA ss3630531099 Oct 11, 2018 (152)
98 ILLUMINA ss3632885359 Oct 11, 2018 (152)
99 ILLUMINA ss3633579536 Oct 11, 2018 (152)
100 ILLUMINA ss3634314679 Oct 11, 2018 (152)
101 ILLUMINA ss3635273543 Oct 11, 2018 (152)
102 ILLUMINA ss3635990561 Oct 11, 2018 (152)
103 ILLUMINA ss3637023929 Oct 11, 2018 (152)
104 ILLUMINA ss3637745267 Oct 11, 2018 (152)
105 ILLUMINA ss3638893113 Oct 11, 2018 (152)
106 ILLUMINA ss3639443697 Oct 11, 2018 (152)
107 ILLUMINA ss3640022041 Oct 11, 2018 (152)
108 ILLUMINA ss3642758443 Oct 11, 2018 (152)
109 ILLUMINA ss3644485323 Oct 11, 2018 (152)
110 OMUKHERJEE_ADBS ss3646227819 Oct 11, 2018 (152)
111 ILLUMINA ss3651395753 Oct 11, 2018 (152)
112 EGCUT_WGS ss3654584560 Jul 12, 2019 (153)
113 EVA_DECODE ss3686412898 Jul 12, 2019 (153)
114 ILLUMINA ss3725009117 Jul 12, 2019 (153)
115 ACPOP ss3726895096 Jul 12, 2019 (153)
116 ILLUMINA ss3744043755 Jul 12, 2019 (153)
117 ILLUMINA ss3744615629 Jul 12, 2019 (153)
118 EVA ss3745978907 Jul 12, 2019 (153)
119 PAGE_CC ss3770795946 Jul 12, 2019 (153)
120 ILLUMINA ss3772117170 Jul 12, 2019 (153)
121 PACBIO ss3783362762 Jul 12, 2019 (153)
122 PACBIO ss3789030231 Jul 12, 2019 (153)
123 PACBIO ss3793902788 Jul 12, 2019 (153)
124 KHV_HUMAN_GENOMES ss3798998314 Jul 12, 2019 (153)
125 EVA ss3823585043 Apr 25, 2020 (154)
126 EVA ss3825559255 Apr 25, 2020 (154)
127 EVA ss3826086855 Apr 25, 2020 (154)
128 EVA ss3836430800 Apr 25, 2020 (154)
129 EVA ss3841835767 Apr 25, 2020 (154)
130 HGDP ss3847328187 Apr 25, 2020 (154)
131 SGDP_PRJ ss3848477461 Apr 25, 2020 (154)
132 KRGDB ss3893409456 Apr 25, 2020 (154)
133 KOGIC ss3944113813 Apr 25, 2020 (154)
134 FSA-LAB ss3983924750 Apr 25, 2021 (155)
135 FSA-LAB ss3983924751 Apr 25, 2021 (155)
136 EVA ss3984454326 Apr 25, 2021 (155)
137 EVA ss3984785789 Apr 25, 2021 (155)
138 EVA ss3986109971 Apr 25, 2021 (155)
139 EVA ss4016900132 Apr 25, 2021 (155)
140 TOPMED ss4443297705 Apr 25, 2021 (155)
141 TOMMO_GENOMICS ss5143093183 Apr 25, 2021 (155)
142 EVA ss5237160762 Apr 25, 2021 (155)
143 1000Genomes NC_000001.10 - 28564252 Oct 11, 2018 (152)
144 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 28564252 Oct 11, 2018 (152)
145 Genetic variation in the Estonian population NC_000001.10 - 28564252 Oct 11, 2018 (152)
146 ExAC NC_000001.10 - 28564252 Oct 11, 2018 (152)
147 FINRISK NC_000001.10 - 28564252 Apr 25, 2020 (154)
148 The Danish reference pan genome NC_000001.10 - 28564252 Apr 25, 2020 (154)
149 gnomAD - Genomes NC_000001.11 - 28237741 Apr 25, 2021 (155)
150 gnomAD - Exomes NC_000001.10 - 28564252 Jul 12, 2019 (153)
151 GO Exome Sequencing Project NC_000001.10 - 28564252 Oct 11, 2018 (152)
152 Genome of the Netherlands Release 5 NC_000001.10 - 28564252 Apr 25, 2020 (154)
153 HGDP-CEPH-db Supplement 1 NC_000001.9 - 28436839 Apr 25, 2020 (154)
154 HapMap NC_000001.11 - 28237741 Apr 25, 2020 (154)
155 KOREAN population from KRGDB NC_000001.10 - 28564252 Apr 25, 2020 (154)
156 Korean Genome Project NC_000001.11 - 28237741 Apr 25, 2020 (154)
157 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 28564252 Apr 25, 2020 (154)
158 Northern Sweden NC_000001.10 - 28564252 Jul 12, 2019 (153)
159 The PAGE Study NC_000001.11 - 28237741 Jul 12, 2019 (153)
160 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 28564252 Apr 25, 2021 (155)
161 CNV burdens in cranial meningiomas NC_000001.10 - 28564252 Apr 25, 2021 (155)
162 Qatari NC_000001.10 - 28564252 Apr 25, 2020 (154)
163 SGDP_PRJ NC_000001.10 - 28564252 Apr 25, 2020 (154)
164 Siberian NC_000001.10 - 28564252 Apr 25, 2020 (154)
165 8.3KJPN NC_000001.10 - 28564252 Apr 25, 2021 (155)
166 TopMed NC_000001.11 - 28237741 Apr 25, 2021 (155)
167 UK 10K study - Twins NC_000001.10 - 28564252 Oct 11, 2018 (152)
168 A Vietnamese Genetic Variation Database NC_000001.10 - 28564252 Jul 12, 2019 (153)
169 ALFA NC_000001.11 - 28237741 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)
rs1466787 Jan 18, 2001 (92)
rs3170651 Jul 03, 2002 (106)
rs61333907 May 26, 2008 (130)
rs386617583 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
1128950136 NC_000001.11:28237740:A:C NC_000001.11:28237740:A:C
ss3638893113, ss3639443697 NC_000001.8:28248393:A:G NC_000001.11:28237740:A:G (self)
6079, ss87321117, ss108081825, ss110219865, ss118584189, ss160958610, ss163212754, ss164020676, ss166282737, ss198216614, ss244255266, ss275763614, ss284023970, ss290795664, ss481811105, ss491590182, ss825614949, ss1584337783, ss1712320074, ss3642758443, ss3847328187 NC_000001.9:28436838:A:G NC_000001.11:28237740:A:G (self)
858921, 457916, 322808, 4610753, 2816, 1436733, 317181, 43737, 196504, 586850, 14258, 179961, 11716, 3628, 232040, 494441, 130074, 1062490, 457916, 94725, ss218297672, ss230472252, ss238177417, ss481843626, ss482804575, ss485700228, ss489731367, ss537565887, ss553924595, ss647658537, ss712292779, ss778629562, ss783295674, ss784248153, ss832556973, ss833159722, ss834087149, ss974434249, ss974978221, ss1067418835, ss1067755934, ss1290166134, ss1425755571, ss1573958212, ss1584006355, ss1599793649, ss1642787682, ss1685423254, ss1710897506, ss1751914094, ss1794104967, ss1918190110, ss1945989450, ss1958256557, ss1966710448, ss2019606330, ss2147613720, ss2323188707, ss2632493796, ss2697519661, ss2710668519, ss2731302700, ss2746273390, ss2753057557, ss2986520754, ss3021070263, ss3343379827, ss3625529075, ss3626056175, ss3630531099, ss3632885359, ss3633579536, ss3634314679, ss3635273543, ss3635990561, ss3637023929, ss3637745267, ss3640022041, ss3644485323, ss3646227819, ss3651395753, ss3654584560, ss3726895096, ss3744043755, ss3744615629, ss3745978907, ss3772117170, ss3783362762, ss3789030231, ss3793902788, ss3823585043, ss3825559255, ss3826086855, ss3836430800, ss3848477461, ss3893409456, ss3983924750, ss3983924751, ss3984454326, ss3984785789, ss3986109971, ss4016900132, ss5143093183 NC_000001.10:28564251:A:G NC_000001.11:28237740:A:G (self)
6045972, 35266, 491814, 17415, 4344257, 6904040, 1128950136, ss2160994278, ss3023568344, ss3071835379, ss3686412898, ss3725009117, ss3770795946, ss3798998314, ss3841835767, ss3944113813, ss4443297705, ss5237160762 NC_000001.11:28237740:A:G NC_000001.11:28237740:A:G (self)
ss76883452 NT_004610.18:11388593:A:G NC_000001.11:28237740:A:G (self)
ss10555, ss666798, ss1534831, ss2287205, ss3180068, ss4397260, ss4423483, ss6783787, ss23668318, ss66693942, ss67881382, ss68022240, ss70975325, ss71586871, ss75568214, ss79284431, ss83348578, ss120244574, ss122920477, ss137859728, ss154474417, ss159648901, ss172411412, ss174751573 NT_004610.19:15244339:A:G NC_000001.11:28237740:A:G (self)
ss13043767 NT_037485.3:2675460:A:G NC_000001.11:28237740:A:G (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 rs8559
PMID Title Author Year Journal
19223858 Genomewide linkage scan of schizophrenia in a large multicenter pedigree sample using single nucleotide polymorphisms. Holmans PA et al. 2009 Molecular psychiatry
19680542 Tissue effect on genetic control of transcript isoform variation. Kwan T et al. 2009 PLoS genetics
21525879 Pleiotropy of type 2 diabetes with obesity. Hasstedt SJ et al. 2011 Journal of human genetics
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