SNP Links for PMC (Select 2683940) - SNP

Links from PMC

Items: 18

Select item 173007411.

rs17300741 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:64563990 (GRCh38)
11:64331462 (GRCh37)
Canonical SPDI:: NC_000011.10:64563989:A:G,NC_000011.10:64563989:A:T
Gene:: SLC22A11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.498344/136664 (ALFA)
G=0.038502/645 (TOMMO)
G=0.047912/140 (KOREAN)
G=0.060185/13 (Vietnamese)
G=0.073232/58 (PRJEB37584)
G=0.191275/627 (PRJEB37766)
G=0.291547/607 (HGDP_Stanford)
G=0.319238/25124 (PAGE_STUDY)
G=0.333542/1670 (1000Genomes)
G=0.341966/647 (HapMap)
A=0.362903/90 (SGDP_PRJ)
A=0.388889/7 (Siberian)
G=0.4/16 (GENOME_DK)
G=0.428067/113305 (TOPMED)
A=0.431373/44 (PRJEB36033)
G=0.444444/96 (Qatari)
G=0.444888/62214 (GnomAD)
A=0.44849/1663 (TWINSUK)
G=0.463616/2077 (Estonian)
A=0.468604/1806 (ALSPAC)
A=0.47495/474 (GoNL)
A=0.48/288 (NorthernSweden)
HGVS:: NC_000011.10:g.64563990A>G, NC_000011.10:g.64563990A>T, NC_000011.9:g.64331462A>G, NC_000011.9:g.64331462A>T

PubMed

Select item 168909792.

rs16890979 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:9920543 (GRCh38)
4:9922167 (GRCh37)
Canonical SPDI:: NC_000004.12:9920542:C:T
Gene:: SLC2A9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.226619/42564 (ALFA)
T=0.008188/15 (Korea1K)
T=0.008352/140 (TOMMO)
T=0.014374/42 (KOREAN)
T=0.025253/20 (PRJEB37584)
T=0.027597/17 (Vietnamese)
T=0.161049/86 (MGP)
T=0.163333/98 (NorthernSweden)
T=0.175/7 (GENOME_DK)
T=0.185491/831 (Estonian)
T=0.194079/59 (FINRISK)
T=0.203407/203 (GoNL)
T=0.208874/805 (ALSPAC)
T=0.226807/841 (TWINSUK)
T=0.231481/50 (Qatari)
T=0.239493/28936 (ExAC)
T=0.243464/61149 (GnomAD_exomes)
T=0.252922/476 (HapMap)
T=0.259325/292 (Daghestan)
T=0.272798/1366 (1000Genomes)
T=0.286329/3724 (GoESP)
T=0.289121/40518 (GnomAD)
T=0.300076/79427 (TOPMED)
T=0.3125/30 (PRJEB36033)
T=0.324697/25553 (PAGE_STUDY)
C=0.415179/93 (SGDP_PRJ)
C=0.45/9 (Siberian)
HGVS:: NC_000004.12:g.9920543C>T, NC_000004.11:g.9922167C>T, NG_011540.1:g.124706G>A, NM_020041.3:c.844G>A, NM_020041.2:c.844G>A, NM_001001290.2:c.757G>A, NM_001001290.1:c.757G>A, XM_006713968.5:c.844G>A, XM_006713968.4:c.844G>A, XM_006713968.3:c.844G>A, XM_006713968.2:c.844G>A, XM_006713968.1:c.844G>A, XM_011513867.4:c.286G>A, XM_011513867.3:c.286G>A, XM_011513867.2:c.286G>A, XM_011513867.1:c.286G>A, XM_011513859.4:c.844G>A, XM_011513859.3:c.844G>A, XM_011513859.2:c.844G>A, XM_011513859.1:c.844G>A, XM_011513860.4:c.844G>A, XM_011513860.3:c.844G>A, XM_011513860.2:c.844G>A, XM_011513860.1:c.844G>A, XM_011513861.4:c.844G>A, XM_011513861.3:c.844G>A, XM_011513861.2:c.844G>A, XM_011513861.1:c.844G>A, XM_011513856.4:c.844G>A, XM_011513856.3:c.844G>A, XM_011513856.2:c.844G>A, XM_011513856.1:c.844G>A, XM_011513866.3:c.844G>A, XM_011513866.2:c.844G>A, XM_011513866.1:c.844G>A, XM_011513865.3:c.844G>A, XM_011513865.2:c.844G>A, XM_011513865.1:c.844G>A, XM_017008460.3:c.448G>A, XM_017008460.2:c.448G>A, XM_017008460.1:c.448G>A, XM_017008458.3:c.844G>A, XM_017008458.2:c.844G>A, XM_017008458.1:c.844G>A, XM_017008457.3:c.844G>A, XM_017008457.2:c.844G>A, XM_017008457.1:c.844G>A, XM_011513864.3:c.436G>A, XM_011513864.2:c.436G>A, XM_011513864.1:c.436G>A, XM_024454152.2:c.844G>A, XM_024454152.1:c.844G>A, XM_024454151.2:c.457G>A, XM_024454151.1:c.457G>A, XM_024454153.2:c.844G>A, XM_024454153.1:c.844G>A, XM_011513858.2:c.757G>A, XM_011513858.1:c.757G>A, XM_017008459.2:c.382G>A, XM_017008459.1:c.382G>A, XM_047415980.1:c.448G>A, XM_047415977.1:c.448G>A, XM_047415974.1:c.844G>A, XM_047415976.1:c.448G>A, XM_047415978.1:c.436G>A, XM_047415973.1:c.757G>A, XM_047415975.1:c.757G>A, XM_047415979.1:c.844G>A, NP_064425.2:p.Val282Ile, NP_001001290.1:p.Val253Ile, XP_006714031.1:p.Val282Ile, XP_011512169.1:p.Val96Ile, XP_011512161.1:p.Val282Ile, XP_011512162.1:p.Val282Ile, XP_011512163.1:p.Val282Ile, XP_011512158.1:p.Val282Ile, XP_011512168.1:p.Val282Ile, XP_011512167.1:p.Val282Ile, XP_016863949.2:p.Val150Ile, XP_016863947.1:p.Val282Ile, XP_016863946.1:p.Val282Ile, XP_011512166.1:p.Val146Ile, XP_024309920.1:p.Val282Ile, XP_024309919.1:p.Val153Ile, XP_024309921.1:p.Val282Ile, XP_011512160.1:p.Val253Ile, XP_016863948.1:p.Val128Ile, XP_047271936.1:p.Val150Ile, XP_047271933.1:p.Val150Ile, XP_047271930.1:p.Val282Ile, XP_047271932.1:p.Val150Ile, XP_047271934.1:p.Val146Ile, XP_047271929.1:p.Val253Ile, XP_047271931.1:p.Val253Ile, XP_047271935.1:p.Val282Ile

PubMed

Select item 124987423.

rs12498742 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:9942428 (GRCh38)
4:9944052 (GRCh37)
Canonical SPDI:: NC_000004.12:9942427:A:C,NC_000004.12:9942427:A:G
Gene:: SLC2A9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.299406/9478 (ALFA)
G=0.008812/148 (TOMMO)
G=0.009279/17 (Korea1K)
G=0.014716/43 (KOREAN)
G=0.02665/21 (PRJEB37584)
G=0.032407/7 (Vietnamese)
G=0.191667/115 (NorthernSweden)
G=0.2/8 (GENOME_DK)
G=0.203125/910 (Estonian)
G=0.226777/874 (ALSPAC)
G=0.230461/230 (GoNL)
G=0.238673/885 (TWINSUK)
G=0.259259/56 (Qatari)
G=0.266667/8 (PRJEB36033)
G=0.293432/554 (HapMap)
G=0.311056/1558 (1000Genomes)
G=0.314696/197 (Chileans)
G=0.330072/46222 (GnomAD)
G=0.340119/90026 (TOPMED)
A=0.384298/93 (SGDP_PRJ)
A=0.454545/10 (Siberian)
HGVS:: NC_000004.12:g.9942428A>C, NC_000004.12:g.9942428A>G, NC_000004.11:g.9944052A>C, NC_000004.11:g.9944052A>G, NG_011540.1:g.102821T>G, NG_011540.1:g.102821T>C

PubMed

Select item 123561934.

rs12356193 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:59653595 (GRCh38)
10:61413353 (GRCh37)
Canonical SPDI:: NC_000010.11:59653594:A:G
Gene:: SLC16A9 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.156209/52536 (ALFA)
G=0.000035/1 (TOMMO)
G=0.000684/2 (KOREAN)
G=0.004717/1 (Vietnamese)
G=0.005051/4 (PRJEB37584)
G=0.08122/6392 (PAGE_STUDY)
G=0.083093/173 (HGDP_Stanford)
G=0.088398/160 (HapMap)
G=0.088538/443 (1000Genomes)
G=0.106696/478 (Estonian)
G=0.11985/64 (MGP)
G=0.12107/32046 (TOPMED)
G=0.121481/17021 (GnomAD)
G=0.128333/77 (NorthernSweden)
G=0.144366/164 (Daghestan)
G=0.152778/33 (Qatari)
G=0.162082/601 (TWINSUK)
G=0.167878/647 (ALSPAC)
G=0.168337/168 (GoNL)
G=0.275/11 (GENOME_DK)
G=0.375/6 (PRJEB36033)
A=0.414634/34 (SGDP_PRJ)
A=0.5/5 (Siberian)
HGVS:: NC_000010.11:g.59653595A>G, NC_000010.10:g.61413353A>G, XM_017015883.2:c.1431T>C, XM_017015883.1:c.1431T>C, XM_047424753.1:c.1431T>C, XM_047424756.1:c.1431T>C, XM_047424754.1:c.1431T>C, XM_047424755.1:c.1431T>C

PubMed

Select item 121298615.

rs12129861 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:145709377 (GRCh38)
1:145725689 (GRCh37)
Canonical SPDI:: NC_000001.11:145709376:C:T
Gene:: PDZK1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.445971/111004 (ALFA)
T=0.108791/1823 (TOMMO)
A=0.140614/412 (KOREAN)
T=0.145197/266 (Korea1K)
A=0.197115/41 (Vietnamese)
A=0.197201/155 (PRJEB37584)
G=0.305556/11 (Siberian)
T=0.325053/615 (HapMap)
A=0.328704/71 (Qatari)
T=0.330887/1657 (1000Genomes)
G=0.391667/94 (SGDP_PRJ)
T=0.412581/109206 (TOPMED)
T=0.43203/60466 (GnomAD)
A=0.447368/34 (PRJEB36033)
A=0.45/18 (GENOME_DK)
A=0.476667/286 (NorthernSweden)
A=0.484358/1796 (TWINSUK)
A=0.485729/1872 (ALSPAC)
A=0.495089/2218 (Estonian)
A=0.498998/498 (GoNL)
HGVS:: NC_000001.11:g.145709377C>T, NW_003871055.3:g.2524790C>T, NG_050630.2:g.3825G>A, NC_000001.10:g.145725689G>A

PubMed

Select item 93936726.

rs9393672 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 6:25842377 (GRCh38)
6:25842605 (GRCh37)
Canonical SPDI:: NC_000006.12:25842376:T:A,NC_000006.12:25842376:T:C,NC_000006.12:25842376:T:G
Gene:: LOC124901285 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.487282/106781 (ALFA)
C=0./0 (KOREAN)
T=0.19214/352 (Korea1K)
T=0.204544/3428 (TOMMO)
T=0.268722/122 (SGDP_PRJ)
T=0.28/14 (Siberian)
T=0.325472/69 (Vietnamese)
T=0.425/17 (GENOME_DK)
T=0.425144/886 (HGDP_Stanford)
T=0.432059/814 (HapMap)
T=0.441911/2213 (1000Genomes)
T=0.445/267 (NorthernSweden)
T=0.457589/2050 (Estonian)
G=0.462963/100 (Qatari)
T=0.464941/1724 (TWINSUK)
T=0.473793/1826 (ALSPAC)
T=0.48/24 (PRJEB36033)
T=0.483947/128096 (TOPMED)
G=0.485035/551 (Daghestan)
T=0.48606/67995 (GnomAD)
T=0.487976/487 (GoNL)
HGVS:: NC_000006.12:g.25842377T>A, NC_000006.12:g.25842377T>C, NC_000006.12:g.25842377T>G, NC_000006.11:g.25842605T>A, NC_000006.11:g.25842605T>C, NC_000006.11:g.25842605T>G

PubMed

Select item 22311427.

rs2231142 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 4:88131171 (GRCh38)
4:89052323 (GRCh37)
Canonical SPDI:: NC_000004.12:88131170:G:A,NC_000004.12:88131170:G:C,NC_000004.12:88131170:G:T
Gene:: ABCG2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,missense_variant
Clinical significance:: drug-response,association,not-provided
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.101813/25086 (ALFA)
T=0./0 (PRJEB36033)
T=0.059083/67 (Daghestan)
T=0.060185/13 (Qatari)
T=0.069079/21 (FINRISK)
T=0.071161/38 (MGP)
T=0.084499/1099 (GoESP)
T=0.085491/383 (Estonian)
T=0.098685/26121 (TOPMED)
T=0.103788/400 (ALSPAC)
T=0.108679/8553 (PAGE_STUDY)
T=0.111222/111 (GoNL)
T=0.11165/414 (TWINSUK)
T=0.114304/572 (1000Genomes)
T=0.118017/14323 (ExAC)
T=0.122951/210 (HapMap)
T=0.124655/31308 (GnomAD_exomes)
T=0.145873/304 (HGDP_Stanford)
T=0.15/6 (GENOME_DK)
T=0.15/90 (NorthernSweden)
T=0.155919/324 (PharmGKB)
T=0.258104/844 (PRJEB37766)
T=0.274017/502 (Korea1K)
T=0.278157/815 (KOREAN)
T=0.29397/4927 (TOMMO)
T=0.302532/239 (PRJEB37584)
T=0.315961/194 (Vietnamese)
G=0.424242/56 (SGDP_PRJ)
G=0.5/7 (Siberian)
HGVS:: NC_000004.12:g.88131171G>A, NC_000004.12:g.88131171G>C, NC_000004.12:g.88131171G>T, NC_000004.11:g.89052323G>A, NC_000004.11:g.89052323G>C, NC_000004.11:g.89052323G>T, NG_032067.2:g.105152C>T, NG_032067.2:g.105152C>G, NG_032067.2:g.105152C>A, NM_004827.3:c.421C>T, NM_004827.3:c.421C>G, NM_004827.3:c.421C>A, NM_004827.2:c.421C>T, NM_004827.2:c.421C>G, NM_004827.2:c.421C>A, NM_001257386.2:c.421C>T, NM_001257386.2:c.421C>G, NM_001257386.2:c.421C>A, NM_001257386.1:c.421C>T, NM_001257386.1:c.421C>G, NM_001257386.1:c.421C>A, NM_001348989.2:c.421C>T, NM_001348989.2:c.421C>G, NM_001348989.2:c.421C>A, NM_001348989.1:c.421C>T, NM_001348989.1:c.421C>G, NM_001348989.1:c.421C>A, NM_001348985.1:c.421C>T, NM_001348985.1:c.421C>G, NM_001348985.1:c.421C>A, NM_001348988.1:c.421C>T, NM_001348988.1:c.421C>G, NM_001348988.1:c.421C>A, NM_001348987.1:c.421C>T, NM_001348987.1:c.421C>G, NM_001348987.1:c.421C>A, NM_001348986.1:c.421C>T, NM_001348986.1:c.421C>G, NM_001348986.1:c.421C>A, XM_011532420.4:c.421C>T, XM_011532420.4:c.421C>G, XM_011532420.4:c.421C>A, XM_011532420.3:c.421C>T, XM_011532420.3:c.421C>G, XM_011532420.3:c.421C>A, XM_011532420.2:c.421C>T, XM_011532420.2:c.421C>G, XM_011532420.2:c.421C>A, XM_011532420.1:c.421C>T, XM_011532420.1:c.421C>G, XM_011532420.1:c.421C>A, XM_017008852.3:c.421C>T, XM_017008852.3:c.421C>G, XM_017008852.3:c.421C>A, XM_017008852.2:c.421C>T, XM_017008852.2:c.421C>G, XM_017008852.2:c.421C>A, XM_017008852.1:c.421C>T, XM_017008852.1:c.421C>G, XM_017008852.1:c.421C>A, NP_004818.2:p.Gln141Ter, NP_004818.2:p.Gln141Glu, NP_004818.2:p.Gln141Lys, NP_001244315.1:p.Gln141Ter, NP_001244315.1:p.Gln141Glu, NP_001244315.1:p.Gln141Lys, NP_001335918.1:p.Gln141Ter, NP_001335918.1:p.Gln141Glu, NP_001335918.1:p.Gln141Lys, NP_001335914.1:p.Gln141Ter, NP_001335914.1:p.Gln141Glu, NP_001335914.1:p.Gln141Lys, NP_001335917.1:p.Gln141Ter, NP_001335917.1:p.Gln141Glu, NP_001335917.1:p.Gln141Lys, NP_001335916.1:p.Gln141Ter, NP_001335916.1:p.Gln141Glu, NP_001335916.1:p.Gln141Lys, NP_001335915.1:p.Gln141Ter, NP_001335915.1:p.Gln141Glu, NP_001335915.1:p.Gln141Lys, XP_011530722.1:p.Gln141Ter, XP_011530722.1:p.Gln141Glu, XP_011530722.1:p.Gln141Lys, XP_016864341.1:p.Gln141Ter, XP_016864341.1:p.Gln141Glu, XP_016864341.1:p.Gln141Lys

PubMed

Select item 21999368.

rs2199936 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:88124179 (GRCh38)
4:89045331 (GRCh37)
Canonical SPDI:: NC_000004.12:88124178:A:G,NC_000004.12:88124178:A:T
Gene:: ABCG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.113709/2845 (ALFA)
A=0.066607/75 (Daghestan)
A=0.078704/17 (Qatari)
A=0.085491/383 (Estonian)
A=0.113226/113 (GoNL)
A=0.113806/61 (SGDP_PRJ)
A=0.120107/16827 (GnomAD)
A=0.125/7 (Siberian)
A=0.130965/34665 (TOPMED)
A=0.144909/726 (1000Genomes)
A=0.15/90 (NorthernSweden)
A=0.153595/47 (HapMap)
A=0.274017/502 (Korea1K)
A=0.277474/813 (KOREAN)
A=0.283019/60 (Vietnamese)
A=0.293014/4911 (TOMMO)
HGVS:: NC_000004.12:g.88124179A>G, NC_000004.12:g.88124179A>T, NC_000004.11:g.89045331A>G, NC_000004.11:g.89045331A>T, NG_032067.2:g.112144T>C, NG_032067.2:g.112144T>A

PubMed

Select item 20782679.

rs2078267 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:64566642 (GRCh38)
11:64334114 (GRCh37)
Canonical SPDI:: NC_000011.10:64566641:C:A,NC_000011.10:64566641:C:T
Gene:: SLC22A11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.478688/82632 (ALFA)
T=0.009449/158 (TOMMO)
T=0.016085/47 (KOREAN)
T=0.032828/26 (PRJEB37584)
T=0.037736/8 (Vietnamese)
T=0.194833/15333 (PAGE_STUDY)
T=0.195767/370 (HapMap)
T=0.236084/492 (HGDP_Stanford)
T=0.236883/1186 (1000Genomes)
C=0.333333/4 (Siberian)
T=0.367412/230 (Chileans)
T=0.367888/51441 (GnomAD)
C=0.373737/74 (SGDP_PRJ)
T=0.388889/84 (Qatari)
T=0.4/16 (GENOME_DK)
C=0.433333/26 (PRJEB36033)
C=0.450108/1669 (TWINSUK)
T=0.464062/2079 (Estonian)
C=0.469123/1808 (ALSPAC)
C=0.47495/474 (GoNL)
C=0.486667/292 (NorthernSweden)
HGVS:: NC_000011.10:g.64566642C>A, NC_000011.10:g.64566642C>T, NC_000011.9:g.64334114C>A, NC_000011.9:g.64334114C>T

PubMed

Select item 147163310.

rs1471633 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:145711327 (GRCh38)
1:145723739 (GRCh37)
Canonical SPDI:: NC_000001.11:145711326:T:C,NC_000001.11:145711326:T:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.482449/16905 (ALFA)
G=0.074851/1255 (TOMMO)
C=0.109215/320 (KOREAN)
C=0.158505/123 (PRJEB37584)
C=0.205607/44 (Vietnamese)
C=0.273148/59 (Qatari)
A=0.294118/10 (PRJEB36033)
G=0.29878/98 (HapMap)
G=0.310899/1557 (1000Genomes)
A=0.361111/13 (Siberian)
A=0.4/16 (GENOME_DK)
A=0.409091/99 (SGDP_PRJ)
G=0.41229/109129 (TOPMED)
G=0.435663/60998 (GnomAD)
A=0.43988/439 (GoNL)
A=0.458225/1766 (ALSPAC)
A=0.464132/1721 (TWINSUK)
A=0.465848/2087 (Estonian)
A=0.471667/283 (NorthernSweden)
HGVS:: NC_000001.11:g.145711327T>C, NC_000001.11:g.145711327T>G, NW_003871055.3:g.2526740T>C, NW_003871055.3:g.2526740T>G, NG_050630.2:g.1875A>G, NG_050630.2:g.1875A>C, NC_000001.10:g.145723739A>G, NC_000001.10:g.145723739A>C

PubMed

Select item 118320111.

rs1183201 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 6:25823216 (GRCh38)
6:25823444 (GRCh37)
Canonical SPDI:: NC_000006.12:25823215:A:C,NC_000006.12:25823215:A:G,NC_000006.12:25823215:A:T
Gene:: SLC17A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.441745/37126 (ALFA)
G=0./0 (KOREAN)
A=0.144105/264 (Korea1K)
A=0.152594/2557 (TOMMO)
A=0.184949/145 (PRJEB37584)
A=0.234568/114 (SGDP_PRJ)
A=0.236359/18600 (PAGE_STUDY)
A=0.2375/76 (HapMap)
A=0.26/13 (Siberian)
A=0.289975/1452 (1000Genomes)
A=0.325472/69 (Vietnamese)
A=0.332906/88117 (TOPMED)
A=0.34554/48377 (GnomAD)
A=0.407407/88 (Qatari)
A=0.425/17 (GENOME_DK)
A=0.443333/266 (NorthernSweden)
A=0.454545/10 (PRJEB36033)
A=0.455232/1688 (TWINSUK)
A=0.456027/2043 (Estonian)
A=0.462896/1784 (ALSPAC)
A=0.478958/478 (GoNL)
HGVS:: NC_000006.12:g.25823216A>C, NC_000006.12:g.25823216A>G, NC_000006.12:g.25823216A>T, NC_000006.11:g.25823444A>C, NC_000006.11:g.25823444A>G, NC_000006.11:g.25823444A>T

PubMed

Select item 116520512.

rs1165205 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 6:25870314 (GRCh38)
6:25870542 (GRCh37)
Canonical SPDI:: NC_000006.12:25870313:T:A,NC_000006.12:25870313:T:C,NC_000006.12:25870313:T:G
Gene:: SLC17A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.448341/37284 (ALFA)
G=0./0 (KOREAN)
T=0.1381/253 (Korea1K)
T=0.152736/2560 (TOMMO)
T=0.195431/154 (PRJEB37584)
T=0.229167/11 (Siberian)
T=0.236052/110 (SGDP_PRJ)
T=0.245763/464 (HapMap)
T=0.254212/20006 (PAGE_STUDY)
T=0.303404/1519 (1000Genomes)
T=0.324074/70 (Vietnamese)
T=0.34177/90463 (TOPMED)
T=0.352838/49338 (GnomAD)
T=0.407407/88 (Qatari)
T=0.45/18 (GENOME_DK)
T=0.45/270 (NorthernSweden)
T=0.455232/1688 (TWINSUK)
T=0.46575/1795 (ALSPAC)
T=0.48058/2153 (Estonian)
T=0.480962/480 (GoNL)
A=0.483871/30 (PRJEB36033)
A=0.487589/550 (Daghestan)
HGVS:: NC_000006.12:g.25870314T>A, NC_000006.12:g.25870314T>C, NC_000006.12:g.25870314T>G, NC_000006.11:g.25870542T>A, NC_000006.11:g.25870542T>C, NC_000006.11:g.25870542T>G, NG_032922.1:g.8930A>T, NG_032922.1:g.8930A>G, NG_032922.1:g.8930A>C

PubMed

Select item 94237913.

rs942379 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:25849392 (GRCh38)
6:25849620 (GRCh37)
Canonical SPDI:: NC_000006.12:25849391:A:G,NC_000006.12:25849391:A:T
Gene:: SLC17A3 (Varview), LOC124901285 (Varview)
Functional Consequence:: intron_variant,missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.466381/109870 (ALFA)
A=0.135836/398 (KOREAN)
A=0.1381/253 (Korea1K)
A=0.152523/2556 (TOMMO)
A=0.225941/108 (SGDP_PRJ)
A=0.24/12 (Siberian)
A=0.284005/451 (HapMap)
A=0.292484/179 (Vietnamese)
A=0.293567/1470 (1000Genomes)
A=0.333345/88233 (TOPMED)
A=0.340211/709 (HGDP_Stanford)
A=0.360526/4689 (GoESP)
A=0.398099/47783 (ExAC)
A=0.4/20 (PRJEB36033)
A=0.400226/100363 (GnomAD_exomes)
A=0.407407/88 (Qatari)
A=0.430921/131 (FINRISK)
A=0.446667/268 (NorthernSweden)
A=0.45/18 (GENOME_DK)
A=0.453883/1683 (TWINSUK)
A=0.458801/245 (MGP)
A=0.463155/1785 (ALSPAC)
A=0.466518/2090 (Estonian)
A=0.478958/478 (GoNL)
G=0.498239/566 (Daghestan)
HGVS:: NC_000006.12:g.25849392A>G, NC_000006.12:g.25849392A>T, NC_000006.11:g.25849620A>G, NC_000006.11:g.25849620A>T, NG_032922.1:g.29852T>C, NG_032922.1:g.29852T>A, NM_006632.4:c.1110T>C, NM_006632.4:c.1110T>A, NM_006632.3:c.1110T>C, NM_006632.3:c.1110T>A, NM_001098486.2:c.1344T>C, NM_001098486.2:c.1344T>A, NM_001098486.1:c.1344T>C, NM_001098486.1:c.1344T>A, NP_006623.2:p.Ser370Arg, NP_001091956.1:p.Ser448Arg

PubMed

Select item 78009414.

rs780094 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:27518370 (GRCh38)
2:27741237 (GRCh37)
Canonical SPDI:: NC_000002.12:27518369:T:C
Gene:: GCKR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.405056/140813 (ALFA)
T=0.25/118 (SGDP_PRJ)
T=0.26/13 (Siberian)
T=0.266667/160 (NorthernSweden)
T=0.295128/1478 (1000Genomes)
T=0.295474/23190 (PAGE_STUDY)
T=0.33299/88139 (TOPMED)
T=0.33329/46678 (GnomAD)
T=0.338677/338 (GoNL)
T=0.342939/714 (HGDP_Stanford)
T=0.345194/553 (HapMap)
T=0.351351/26 (PRJEB36033)
T=0.363884/401 (Daghestan)
T=0.375/81 (Qatari)
T=0.376339/1686 (Estonian)
T=0.384259/83 (Vietnamese)
T=0.384574/1426 (TWINSUK)
T=0.388428/1497 (ALSPAC)
T=0.4/16 (GENOME_DK)
C=0.429825/7204 (TOMMO)
C=0.469283/1375 (KOREAN)
HGVS:: NC_000002.12:g.27518370T>C, NC_000002.11:g.27741237T>C, NG_028024.1:g.26532T>C

PubMed

Select item 78009315.

rs780093 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:27519736 (GRCh38)
2:27742603 (GRCh37)
Canonical SPDI:: NC_000002.12:27519735:T:C
Gene:: GCKR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.406713/83726 (ALFA)
T=0.235169/111 (SGDP_PRJ)
T=0.26/13 (Siberian)
T=0.266667/160 (NorthernSweden)
T=0.28054/22074 (PAGE_STUDY)
T=0.284041/1422 (1000Genomes)
T=0.306025/579 (HapMap)
T=0.323012/85498 (TOPMED)
T=0.32312/45253 (GnomAD)
T=0.339679/339 (GoNL)
T=0.356481/77 (Qatari)
T=0.364841/413 (Daghestan)
T=0.374777/1679 (Estonian)
T=0.385113/1428 (TWINSUK)
T=0.387909/1495 (ALSPAC)
T=0.392523/84 (Vietnamese)
T=0.4/16 (GENOME_DK)
C=0.424588/7116 (TOMMO)
C=0.452381/38 (PRJEB36033)
C=0.453603/831 (Korea1K)
C=0.457908/359 (PRJEB37584)
C=0.466553/1367 (KOREAN)
HGVS:: NC_000002.12:g.27519736T>C, NC_000002.11:g.27742603T>C, NG_028024.1:g.27898T>C

PubMed

Select item 74213216.

rs742132 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:25607343 (GRCh38)
6:25607571 (GRCh37)
Canonical SPDI:: NC_000006.12:25607342:A:G
Gene:: CARMIL1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.297045/63289 (ALFA)
G=0.213974/392 (Korea1K)
G=0.218089/639 (KOREAN)
G=0.222222/48 (Qatari)
G=0.225/9 (GENOME_DK)
G=0.258838/205 (PRJEB37584)
G=0.269539/269 (GoNL)
G=0.275293/517 (HapMap)
G=0.276358/173 (Chileans)
G=0.288025/4827 (TOMMO)
G=0.288333/173 (NorthernSweden)
G=0.28886/40430 (GnomAD)
G=0.293105/77582 (TOPMED)
G=0.294393/63 (Vietnamese)
G=0.295753/1481 (1000Genomes)
G=0.298813/1108 (TWINSUK)
G=0.300727/1159 (ALSPAC)
G=0.305502/24043 (PAGE_STUDY)
G=0.310268/1390 (Estonian)
A=0.360294/98 (SGDP_PRJ)
A=0.375/12 (Siberian)
A=0.470588/16 (PRJEB36033)
HGVS:: NC_000006.12:g.25607343A>G, NC_000006.11:g.25607571A>G

PubMed

Select item 73455317.

rs734553 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 4:9921380 (GRCh38)
4:9923004 (GRCh37)
Canonical SPDI:: NC_000004.12:9921379:G:A,NC_000004.12:9921379:G:C,NC_000004.12:9921379:G:T
Gene:: SLC2A9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.250588/47080 (ALFA)
G=0.008188/15 (Korea1K)
G=0.008316/139 (TOMMO)
G=0.013993/41 (KOREAN)
G=0.025253/20 (PRJEB37584)
G=0.037037/8 (Vietnamese)
G=0.185185/10 (Siberian)
G=0.189243/95 (SGDP_PRJ)
G=0.191667/115 (NorthernSweden)
G=0.2/8 (GENOME_DK)
G=0.203125/910 (Estonian)
G=0.226453/226 (GoNL)
G=0.233264/899 (ALSPAC)
G=0.247843/919 (TWINSUK)
G=0.273148/59 (Qatari)
G=0.285714/324 (Daghestan)
G=0.296648/531 (HapMap)
G=0.31574/1581 (1000Genomes)
G=0.343708/90976 (TOPMED)
G=0.376072/29569 (PAGE_STUDY)
G=0.463415/38 (PRJEB36033)
HGVS:: NC_000004.12:g.9921380G>A, NC_000004.12:g.9921380G>C, NC_000004.12:g.9921380G>T, NC_000004.11:g.9923004G>A, NC_000004.11:g.9923004G>C, NC_000004.11:g.9923004G>T, NG_011540.1:g.123869C>T, NG_011540.1:g.123869C>G, NG_011540.1:g.123869C>A

PubMed

Select item 50580218.

rs505802 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:64589600 (GRCh38)
11:64357072 (GRCh37)
Canonical SPDI:: NC_000011.10:64589599:T:A,NC_000011.10:64589599:T:C
Gene:: SLC22A12 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.332377/105823 (ALFA)
T=0.169863/2847 (TOMMO)
T=0.227986/668 (KOREAN)
T=0.230895/423 (Korea1K)
T=0.252315/109 (SGDP_PRJ)
T=0.270886/214 (PRJEB37584)
C=0.272727/24 (PRJEB36033)
C=0.288835/1071 (TWINSUK)
C=0.292683/1128 (ALSPAC)
C=0.293587/293 (GoNL)
C=0.303333/182 (NorthernSweden)
T=0.304348/14 (Siberian)
T=0.309524/65 (Vietnamese)
C=0.336161/1506 (Estonian)
C=0.375/15 (GENOME_DK)
T=0.389514/30654 (PAGE_STUDY)
T=0.407505/771 (HapMap)
T=0.427858/2143 (1000Genomes)
C=0.449074/97 (Qatari)
C=0.453806/63551 (GnomAD)
C=0.468499/124007 (TOPMED)
T=0.477927/996 (HGDP_Stanford)
HGVS:: NC_000011.10:g.64589600T>A, NC_000011.10:g.64589600T>C, NC_000011.9:g.64357072T>A, NC_000011.9:g.64357072T>C, NG_008110.1:g.3791T>A, NG_008110.1:g.3791T>C

PubMed

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from PMC

Items: 18

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity