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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.

rs7805747

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:151710715 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.265148 (70182/264690, TOPMED)
A=0.265783 (61204/230278, ALFA)
A=0.267518 (37459/140024, GnomAD) (+ 20 more)
A=0.22237 (17501/78702, PAGE_STUDY)
A=0.00011 (3/28258, 14KJPN)
A=0.00006 (1/16758, 8.3KJPN)
A=0.1857 (1189/6404, 1000G_30x)
A=0.1819 (911/5008, 1000G)
A=0.2377 (1065/4480, Estonian)
A=0.2704 (1042/3854, ALSPAC)
A=0.2638 (978/3708, TWINSUK)
A=0.1550 (323/2084, HGDP_Stanford)
A=0.2455 (382/1556, HapMap)
A=0.2063 (234/1134, Daghestan)
A=0.267 (266/998, GoNL)
A=0.001 (1/792, PRJEB37584)
A=0.255 (153/600, NorthernSweden)
A=0.250 (54/216, Qatari)
G=0.379 (53/140, SGDP_PRJ)
A=0.40 (34/86, Ancient Sardinia)
A=0.30 (12/40, GENOME_DK)
G=0.50 (6/12, Siberian)
A=0.50 (6/12, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
PRKAG2 : Intron Variant
Publications
5 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 230494 G=0.734232 A=0.265768
European Sub 197672 G=0.718959 A=0.281041
African Sub 8132 G=0.6821 A=0.3179
African Others Sub 306 G=0.624 A=0.376
African American Sub 7826 G=0.6844 A=0.3156
Asian Sub 6338 G=0.9995 A=0.0005
East Asian Sub 4504 G=0.9998 A=0.0002
Other Asian Sub 1834 G=0.9989 A=0.0011
Latin American 1 Sub 550 G=0.720 A=0.280
Latin American 2 Sub 1572 G=0.8410 A=0.1590
South Asian Sub 5132 G=0.9039 A=0.0961
Other Sub 11098 G=0.80005 A=0.19995


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 G=0.734852 A=0.265148
Allele Frequency Aggregator Total Global 230278 G=0.734217 A=0.265783
Allele Frequency Aggregator European Sub 197492 G=0.718935 A=0.281065
Allele Frequency Aggregator Other Sub 11076 G=0.80020 A=0.19980
Allele Frequency Aggregator African Sub 8118 G=0.6818 A=0.3182
Allele Frequency Aggregator Asian Sub 6338 G=0.9995 A=0.0005
Allele Frequency Aggregator South Asian Sub 5132 G=0.9039 A=0.0961
Allele Frequency Aggregator Latin American 2 Sub 1572 G=0.8410 A=0.1590
Allele Frequency Aggregator Latin American 1 Sub 550 G=0.720 A=0.280
gnomAD - Genomes Global Study-wide 140024 G=0.732482 A=0.267518
gnomAD - Genomes European Sub 75848 G=0.73754 A=0.26246
gnomAD - Genomes African Sub 41920 G=0.69132 A=0.30868
gnomAD - Genomes American Sub 13648 G=0.79748 A=0.20252
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.6158 A=0.3842
gnomAD - Genomes East Asian Sub 3132 G=0.9974 A=0.0026
gnomAD - Genomes Other Sub 2152 G=0.7384 A=0.2616
The PAGE Study Global Study-wide 78702 G=0.77763 A=0.22237
The PAGE Study AfricanAmerican Sub 32516 G=0.69104 A=0.30896
The PAGE Study Mexican Sub 10810 G=0.85301 A=0.14699
The PAGE Study Asian Sub 8318 G=0.9983 A=0.0017
The PAGE Study PuertoRican Sub 7918 G=0.7377 A=0.2623
The PAGE Study NativeHawaiian Sub 4534 G=0.9285 A=0.0715
The PAGE Study Cuban Sub 4230 G=0.7090 A=0.2910
The PAGE Study Dominican Sub 3828 G=0.7090 A=0.2910
The PAGE Study CentralAmerican Sub 2450 G=0.8359 A=0.1641
The PAGE Study SouthAmerican Sub 1982 G=0.8375 A=0.1625
The PAGE Study NativeAmerican Sub 1260 G=0.7540 A=0.2460
The PAGE Study SouthAsian Sub 856 G=0.916 A=0.084
14KJPN JAPANESE Study-wide 28258 G=0.99989 A=0.00011
8.3KJPN JAPANESE Study-wide 16758 G=0.99994 A=0.00006
1000Genomes_30x Global Study-wide 6404 G=0.8143 A=0.1857
1000Genomes_30x African Sub 1786 G=0.6730 A=0.3270
1000Genomes_30x Europe Sub 1266 G=0.7204 A=0.2796
1000Genomes_30x South Asian Sub 1202 G=0.9301 A=0.0699
1000Genomes_30x East Asian Sub 1170 G=0.9974 A=0.0026
1000Genomes_30x American Sub 980 G=0.833 A=0.167
1000Genomes Global Study-wide 5008 G=0.8181 A=0.1819
1000Genomes African Sub 1322 G=0.6755 A=0.3245
1000Genomes East Asian Sub 1008 G=0.9970 A=0.0030
1000Genomes Europe Sub 1006 G=0.7117 A=0.2883
1000Genomes South Asian Sub 978 G=0.929 A=0.071
1000Genomes American Sub 694 G=0.827 A=0.173
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.7623 A=0.2377
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.7296 A=0.2704
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.7362 A=0.2638
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.8450 A=0.1550
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.989 A=0.011
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.899 A=0.101
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.729 A=0.271
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.722 A=0.278
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.636 A=0.364
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.981 A=0.019
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=1.00 A=0.00
HapMap Global Study-wide 1556 G=0.7545 A=0.2455
HapMap African Sub 692 G=0.688 A=0.312
HapMap American Sub 600 G=0.817 A=0.183
HapMap Europe Sub 174 G=0.678 A=0.322
HapMap Asian Sub 90 G=1.00 A=0.00
Genome-wide autozygosity in Daghestan Global Study-wide 1134 G=0.7937 A=0.2063
Genome-wide autozygosity in Daghestan Daghestan Sub 628 G=0.780 A=0.220
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.771 A=0.229
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.893 A=0.107
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.694 A=0.306
Genome-wide autozygosity in Daghestan South Asian Sub 96 G=0.95 A=0.05
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.67 A=0.33
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.733 A=0.267
CNV burdens in cranial meningiomas Global Study-wide 792 G=0.999 A=0.001
CNV burdens in cranial meningiomas CRM Sub 792 G=0.999 A=0.001
Northern Sweden ACPOP Study-wide 600 G=0.745 A=0.255
Qatari Global Study-wide 216 G=0.750 A=0.250
SGDP_PRJ Global Study-wide 140 G=0.379 A=0.621
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 86 G=0.60 A=0.40
The Danish reference pan genome Danish Study-wide 40 G=0.70 A=0.30
Siberian Global Study-wide 12 G=0.50 A=0.50
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.151710715G>A
GRCh37.p13 chr 7 NC_000007.13:g.151407801G>A
PRKAG2 RefSeqGene (LRG_430) NG_007486.2:g.171517C>T
Gene: PRKAG2, protein kinase AMP-activated non-catalytic subunit gamma 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PRKAG2 transcript variant 3 NM_001040633.2:c.335-3507…

NM_001040633.2:c.335-35078C>T

N/A Intron Variant
PRKAG2 transcript variant 4 NM_001304527.2:c.94+25185…

NM_001304527.2:c.94+25185C>T

N/A Intron Variant
PRKAG2 transcript variant 6 NM_001363698.2:c.94+25185…

NM_001363698.2:c.94+25185C>T

N/A Intron Variant
PRKAG2 transcript variant 1 NM_016203.4:c.467-35078C>T N/A Intron Variant
PRKAG2 transcript variant 5 NM_001304531.2:c. N/A Genic Upstream Transcript Variant
PRKAG2 transcript variant 2 NM_024429.2:c. N/A Genic Upstream Transcript Variant
PRKAG2 transcript variant X3 XM_005250002.5:c.467-3507…

XM_005250002.5:c.467-35078C>T

N/A Intron Variant
PRKAG2 transcript variant X9 XM_005250006.6:c.94+25185…

XM_005250006.6:c.94+25185C>T

N/A Intron Variant
PRKAG2 transcript variant X1 XM_006716021.3:c.455-3507…

XM_006716021.3:c.455-35078C>T

N/A Intron Variant
PRKAG2 transcript variant X2 XM_011516282.2:c.455-3507…

XM_011516282.2:c.455-35078C>T

N/A Intron Variant
PRKAG2 transcript variant X3 XM_011516283.2:c.455-3507…

XM_011516283.2:c.455-35078C>T

N/A Intron Variant
PRKAG2 transcript variant X4 XM_011516284.2:c.455-3507…

XM_011516284.2:c.455-35078C>T

N/A Intron Variant
PRKAG2 transcript variant X8 XM_017012269.2:c.467-3507…

XM_017012269.2:c.467-35078C>T

N/A Intron Variant
PRKAG2 transcript variant X4 XM_047420447.1:c.467-3507…

XM_047420447.1:c.467-35078C>T

N/A Intron Variant
PRKAG2 transcript variant X5 XM_047420448.1:c.335-3507…

XM_047420448.1:c.335-35078C>T

N/A Intron Variant
PRKAG2 transcript variant X10 XM_047420449.1:c.94+25185…

XM_047420449.1:c.94+25185C>T

N/A Intron Variant
PRKAG2 transcript variant X11 XM_011516285.3:c. N/A Genic Upstream Transcript Variant
PRKAG2 transcript variant X6 XM_011516286.3:c. N/A Genic Upstream Transcript Variant
PRKAG2 transcript variant X7 XM_017012277.3:c. N/A Genic Upstream Transcript Variant
PRKAG2 transcript variant X8 XM_047420450.1:c. N/A Genic 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.

Allele: A (allele ID: 1216096 )
ClinVar Accession Disease Names Clinical Significance
RCV001611394.3 not provided Benign
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A
GRCh38.p14 chr 7 NC_000007.14:g.151710715= NC_000007.14:g.151710715G>A
GRCh37.p13 chr 7 NC_000007.13:g.151407801= NC_000007.13:g.151407801G>A
PRKAG2 RefSeqGene (LRG_430) NG_007486.2:g.171517= NG_007486.2:g.171517C>T
PRKAG2 transcript variant c NM_001040633.1:c.335-35078= NM_001040633.1:c.335-35078C>T
PRKAG2 transcript variant 3 NM_001040633.2:c.335-35078= NM_001040633.2:c.335-35078C>T
PRKAG2 transcript variant 4 NM_001304527.2:c.94+25185= NM_001304527.2:c.94+25185C>T
PRKAG2 transcript variant 6 NM_001363698.2:c.94+25185= NM_001363698.2:c.94+25185C>T
PRKAG2 transcript variant a NM_016203.3:c.467-35078= NM_016203.3:c.467-35078C>T
PRKAG2 transcript variant 1 NM_016203.4:c.467-35078= NM_016203.4:c.467-35078C>T
PRKAG2 transcript variant X1 XM_005250002.1:c.467-35078= XM_005250002.1:c.467-35078C>T
PRKAG2 transcript variant X3 XM_005250002.5:c.467-35078= XM_005250002.5:c.467-35078C>T
PRKAG2 transcript variant X2 XM_005250003.1:c.467-35078= XM_005250003.1:c.467-35078C>T
PRKAG2 transcript variant X3 XM_005250004.1:c.335-35078= XM_005250004.1:c.335-35078C>T
PRKAG2 transcript variant X4 XM_005250005.1:c.467-35078= XM_005250005.1:c.467-35078C>T
PRKAG2 transcript variant X5 XM_005250006.1:c.94+25185= XM_005250006.1:c.94+25185C>T
PRKAG2 transcript variant X9 XM_005250006.6:c.94+25185= XM_005250006.6:c.94+25185C>T
PRKAG2 transcript variant X6 XM_005250007.1:c.94+25185= XM_005250007.1:c.94+25185C>T
PRKAG2 transcript variant X1 XM_006716021.3:c.455-35078= XM_006716021.3:c.455-35078C>T
PRKAG2 transcript variant X2 XM_011516282.2:c.455-35078= XM_011516282.2:c.455-35078C>T
PRKAG2 transcript variant X3 XM_011516283.2:c.455-35078= XM_011516283.2:c.455-35078C>T
PRKAG2 transcript variant X4 XM_011516284.2:c.455-35078= XM_011516284.2:c.455-35078C>T
PRKAG2 transcript variant X8 XM_017012269.2:c.467-35078= XM_017012269.2:c.467-35078C>T
PRKAG2 transcript variant X4 XM_047420447.1:c.467-35078= XM_047420447.1:c.467-35078C>T
PRKAG2 transcript variant X5 XM_047420448.1:c.335-35078= XM_047420448.1:c.335-35078C>T
PRKAG2 transcript variant X10 XM_047420449.1:c.94+25185= XM_047420449.1:c.94+25185C>T
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

96 SubSNP, 22 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss11896706 Jul 11, 2003 (116)
2 ILLUMINA ss67833362 Nov 30, 2006 (127)
3 ILLUMINA ss67992851 Nov 30, 2006 (127)
4 ILLUMINA ss68287090 Dec 12, 2006 (127)
5 ILLUMINA ss70951197 May 24, 2008 (130)
6 ILLUMINA ss71557407 May 17, 2007 (127)
7 ILLUMINA ss75665122 Dec 07, 2007 (129)
8 KRIBB_YJKIM ss84729319 Dec 15, 2007 (130)
9 1000GENOMES ss112646184 Jan 25, 2009 (130)
10 ILLUMINA-UK ss116388250 Feb 14, 2009 (130)
11 ILLUMINA ss154448745 Dec 01, 2009 (131)
12 ILLUMINA ss159623482 Dec 01, 2009 (131)
13 ILLUMINA ss174558798 Jul 04, 2010 (132)
14 BUSHMAN ss198495964 Jul 04, 2010 (132)
15 1000GENOMES ss212139663 Jul 14, 2010 (132)
16 1000GENOMES ss223416879 Jul 14, 2010 (132)
17 1000GENOMES ss234227396 Jul 15, 2010 (132)
18 ILLUMINA ss244310996 Jul 04, 2010 (132)
19 EXOME_CHIP ss491408563 May 04, 2012 (137)
20 ILLUMINA ss537516552 Sep 08, 2015 (146)
21 TISHKOFF ss560403185 Apr 25, 2013 (138)
22 SSMP ss654816685 Apr 25, 2013 (138)
23 ILLUMINA ss780686835 Sep 08, 2015 (146)
24 ILLUMINA ss783360371 Sep 08, 2015 (146)
25 ILLUMINA ss833134389 Jul 13, 2019 (153)
26 EVA-GONL ss984964232 Aug 21, 2014 (142)
27 JMKIDD_LAB ss1075104293 Aug 21, 2014 (142)
28 1000GENOMES ss1327763916 Aug 21, 2014 (142)
29 HAMMER_LAB ss1397510158 Sep 08, 2015 (146)
30 EVA_GENOME_DK ss1582465351 Apr 01, 2015 (144)
31 EVA_DECODE ss1594554862 Apr 01, 2015 (144)
32 EVA_UK10K_ALSPAC ss1619545454 Apr 01, 2015 (144)
33 EVA_UK10K_TWINSUK ss1662539487 Apr 01, 2015 (144)
34 EVA_SVP ss1712998819 Apr 01, 2015 (144)
35 ILLUMINA ss1752672450 Sep 08, 2015 (146)
36 HAMMER_LAB ss1805295789 Sep 08, 2015 (146)
37 ILLUMINA ss1917824465 Feb 12, 2016 (147)
38 WEILL_CORNELL_DGM ss1928227503 Feb 12, 2016 (147)
39 ILLUMINA ss1946225350 Feb 12, 2016 (147)
40 ILLUMINA ss1959066886 Feb 12, 2016 (147)
41 JJLAB ss2024802588 Sep 14, 2016 (149)
42 USC_VALOUEV ss2153026605 Dec 20, 2016 (150)
43 HUMAN_LONGEVITY ss2299113100 Dec 20, 2016 (150)
44 GNOMAD ss2860914529 Nov 08, 2017 (151)
45 AFFY ss2985425803 Nov 08, 2017 (151)
46 AFFY ss2986056024 Nov 08, 2017 (151)
47 SWEGEN ss3002304454 Nov 08, 2017 (151)
48 BIOINF_KMB_FNS_UNIBA ss3026190376 Nov 08, 2017 (151)
49 CSHL ss3347919993 Nov 08, 2017 (151)
50 ILLUMINA ss3629949034 Oct 12, 2018 (152)
51 ILLUMINA ss3629949035 Oct 12, 2018 (152)
52 ILLUMINA ss3635149295 Oct 12, 2018 (152)
53 ILLUMINA ss3638732711 Oct 12, 2018 (152)
54 ILLUMINA ss3639367277 Oct 12, 2018 (152)
55 ILLUMINA ss3639977675 Oct 12, 2018 (152)
56 ILLUMINA ss3640856585 Oct 12, 2018 (152)
57 ILLUMINA ss3643665754 Oct 12, 2018 (152)
58 ILLUMINA ss3644021473 Oct 12, 2018 (152)
59 ILLUMINA ss3644958508 Oct 12, 2018 (152)
60 ILLUMINA ss3654187293 Oct 12, 2018 (152)
61 EGCUT_WGS ss3670043780 Jul 13, 2019 (153)
62 EVA_DECODE ss3721004386 Jul 13, 2019 (153)
63 ACPOP ss3735207638 Jul 13, 2019 (153)
64 ILLUMINA ss3744575660 Jul 13, 2019 (153)
65 ILLUMINA ss3745449233 Jul 13, 2019 (153)
66 EVA ss3767351329 Jul 13, 2019 (153)
67 PAGE_CC ss3771409401 Jul 13, 2019 (153)
68 ILLUMINA ss3772941911 Jul 13, 2019 (153)
69 PACBIO ss3786004059 Jul 13, 2019 (153)
70 PACBIO ss3791275785 Jul 13, 2019 (153)
71 PACBIO ss3796156099 Jul 13, 2019 (153)
72 KHV_HUMAN_GENOMES ss3810519920 Jul 13, 2019 (153)
73 EVA ss3830900279 Apr 26, 2020 (154)
74 EVA ss3838950712 Apr 26, 2020 (154)
75 EVA ss3844408326 Apr 26, 2020 (154)
76 HGDP ss3847895908 Apr 26, 2020 (154)
77 SGDP_PRJ ss3868736821 Apr 26, 2020 (154)
78 EVA ss3984597666 Apr 26, 2021 (155)
79 EVA ss3985330837 Apr 26, 2021 (155)
80 EVA ss4017367099 Apr 26, 2021 (155)
81 TOPMED ss4769170267 Apr 26, 2021 (155)
82 TOMMO_GENOMICS ss5186310358 Apr 26, 2021 (155)
83 EVA ss5237432240 Apr 26, 2021 (155)
84 1000G_HIGH_COVERAGE ss5275308346 Oct 17, 2022 (156)
85 EVA ss5377799233 Oct 17, 2022 (156)
86 HUGCELL_USP ss5472117475 Oct 17, 2022 (156)
87 EVA ss5509186201 Oct 17, 2022 (156)
88 1000G_HIGH_COVERAGE ss5564746411 Oct 17, 2022 (156)
89 SANFORD_IMAGENETICS ss5624679408 Oct 17, 2022 (156)
90 SANFORD_IMAGENETICS ss5644310866 Oct 17, 2022 (156)
91 TOMMO_GENOMICS ss5727535576 Oct 17, 2022 (156)
92 EVA ss5823742802 Oct 17, 2022 (156)
93 EVA ss5847328971 Oct 17, 2022 (156)
94 EVA ss5861512999 Oct 17, 2022 (156)
95 EVA ss5973512369 Oct 17, 2022 (156)
96 EVA ss5979846724 Oct 17, 2022 (156)
97 1000Genomes NC_000007.13 - 151407801 Oct 12, 2018 (152)
98 1000Genomes_30x NC_000007.14 - 151710715 Oct 17, 2022 (156)
99 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 151407801 Oct 12, 2018 (152)
100 Genome-wide autozygosity in Daghestan NC_000007.12 - 151038734 Apr 26, 2020 (154)
101 Genetic variation in the Estonian population NC_000007.13 - 151407801 Oct 12, 2018 (152)
102 The Danish reference pan genome NC_000007.13 - 151407801 Apr 26, 2020 (154)
103 gnomAD - Genomes NC_000007.14 - 151710715 Apr 26, 2021 (155)
104 Genome of the Netherlands Release 5 NC_000007.13 - 151407801 Apr 26, 2020 (154)
105 HGDP-CEPH-db Supplement 1 NC_000007.12 - 151038734 Apr 26, 2020 (154)
106 HapMap NC_000007.14 - 151710715 Apr 26, 2020 (154)
107 Northern Sweden NC_000007.13 - 151407801 Jul 13, 2019 (153)
108 The PAGE Study NC_000007.14 - 151710715 Jul 13, 2019 (153)
109 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000007.13 - 151407801 Apr 26, 2021 (155)
110 CNV burdens in cranial meningiomas NC_000007.13 - 151407801 Apr 26, 2021 (155)
111 Qatari NC_000007.13 - 151407801 Apr 26, 2020 (154)
112 SGDP_PRJ NC_000007.13 - 151407801 Apr 26, 2020 (154)
113 Siberian NC_000007.13 - 151407801 Apr 26, 2020 (154)
114 8.3KJPN NC_000007.13 - 151407801 Apr 26, 2021 (155)
115 14KJPN NC_000007.14 - 151710715 Oct 17, 2022 (156)
116 TopMed NC_000007.14 - 151710715 Apr 26, 2021 (155)
117 UK 10K study - Twins NC_000007.13 - 151407801 Oct 12, 2018 (152)
118 ALFA NC_000007.14 - 151710715 Apr 26, 2021 (155)
119 ClinVar RCV001611394.3 Oct 17, 2022 (156)
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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)
rs58694236 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3639367277, ss3639977675, ss3644021473 NC_000007.11:150845448:G:A NC_000007.14:151710714:G:A (self)
484138, 573800, ss112646184, ss116388250, ss198495964, ss212139663, ss1397510158, ss1594554862, ss1712998819, ss3643665754, ss3847895908 NC_000007.12:151038733:G:A NC_000007.14:151710714:G:A (self)
39830788, 22164246, 15782028, 8630289, 9889285, 8492503, 556764, 147100, 10269433, 20753801, 5542959, 44279665, 22164246, ss223416879, ss234227396, ss491408563, ss537516552, ss560403185, ss654816685, ss780686835, ss783360371, ss833134389, ss984964232, ss1075104293, ss1327763916, ss1582465351, ss1619545454, ss1662539487, ss1752672450, ss1805295789, ss1917824465, ss1928227503, ss1946225350, ss1959066886, ss2024802588, ss2153026605, ss2860914529, ss2985425803, ss2986056024, ss3002304454, ss3347919993, ss3629949034, ss3629949035, ss3635149295, ss3638732711, ss3640856585, ss3644958508, ss3654187293, ss3670043780, ss3735207638, ss3744575660, ss3745449233, ss3767351329, ss3772941911, ss3786004059, ss3791275785, ss3796156099, ss3830900279, ss3838950712, ss3868736821, ss3984597666, ss3985330837, ss4017367099, ss5186310358, ss5237432240, ss5377799233, ss5509186201, ss5624679408, ss5644310866, ss5823742802, ss5847328971, ss5973512369, ss5979846724 NC_000007.13:151407800:G:A NC_000007.14:151710714:G:A (self)
RCV001611394.3, 52272346, 281244579, 3524327, 630870, 61372680, 606547826, 14189885142, ss2299113100, ss3026190376, ss3721004386, ss3771409401, ss3810519920, ss3844408326, ss4769170267, ss5275308346, ss5472117475, ss5564746411, ss5727535576, ss5861512999 NC_000007.14:151710714:G:A NC_000007.14:151710714:G:A (self)
ss11896706 NT_007914.12:11950571:G:A NC_000007.14:151710714:G:A (self)
ss67833362, ss67992851, ss68287090, ss70951197, ss71557407, ss75665122, ss84729319, ss154448745, ss159623482, ss174558798, ss244310996 NT_007914.15:12003423:G:A NC_000007.14:151710714:G:A (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

5 citations for rs7805747
PMID Title Author Year Journal
20383146 New loci associated with kidney function and chronic kidney disease. Köttgen A et al. 2010 Nature genetics
21980298 Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD. Böger CA et al. 2011 PLoS genetics
25238615 A gene variant in CERS2 is associated with rate of increase in albuminuria in patients with diabetes from ONTARGET and TRANSCEND. Shiffman D et al. 2014 PloS one
25541970 The influence of the CHIEF pathway on colorectal cancer-specific mortality. Slattery ML et al. 2014 PloS one
30559760 Functional Prediction of Chronic Kidney Disease Susceptibility Gene PRKAG2 by Comprehensively Bioinformatics Analysis. Wang E et al. 2018 Frontiers in genetics
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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