COLGALT2 - SNP

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Select item 7244261.

rs724426 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:183970792 (GRCh38)
1:183939926 (GRCh37)
Canonical SPDI:: NC_000001.11:183970791:T:A,NC_000001.11:183970791:T:C
Gene:: COLGALT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.416648/7468 (ALFA)
T=0.093467/1567 (TOMMO)
T=0.116041/340 (KOREAN)
T=0.122271/224 (Korea1K)
T=0.166667/8 (Siberian)
T=0.185259/93 (SGDP_PRJ)
T=0.226852/49 (Vietnamese)
T=0.318333/191 (NorthernSweden)
T=0.351852/76 (Qatari)
T=0.353373/1770 (1000Genomes)
T=0.395674/104731 (TOPMED)
T=0.411634/57623 (GnomAD)
T=0.413828/413 (GoNL)
T=0.416397/1544 (TWINSUK)
T=0.417229/1608 (ALSPAC)
T=0.438616/1965 (Estonian)
T=0.475/19 (GENOME_DK)
HGVS:: NC_000001.11:g.183970792T>A, NC_000001.11:g.183970792T>C, NC_000001.10:g.183939926T>A, NC_000001.10:g.183939926T>C

Select item 7244272.

rs724427 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:183970851 (GRCh38)
1:183939985 (GRCh37)
Canonical SPDI:: NC_000001.11:183970850:A:G,NC_000001.11:183970850:A:T
Gene:: COLGALT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.016913/288 (ALFA)
T=0.033975/569 (TOMMO)
T=0.054241/243 (Estonian)
T=0.060185/13 (Qatari)
T=0.063319/116 (Korea1K)
T=0.066365/332 (1000Genomes)
T=0.066735/195 (KOREAN)
T=0.068136/68 (GoNL)
T=0.0685/264 (ALSPAC)
T=0.079198/20963 (TOPMED)
T=0.085491/317 (TWINSUK)
T=0.087177/155 (HapMap)
T=0.103102/113 (Daghestan)
T=0.103774/22 (Vietnamese)
T=0.105/63 (NorthernSweden)
T=0.125/5 (GENOME_DK)
T=0.142857/2 (PRJEB36033)
A=0.469697/31 (SGDP_PRJ)
A=0.5/4 (Siberian)
HGVS:: NC_000001.11:g.183970851A>G, NC_000001.11:g.183970851A>T, NC_000001.10:g.183939985A>G, NC_000001.10:g.183939985A>T

Select item 7306013.

rs730601 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:183942468 (GRCh38)
1:183911602 (GRCh37)
Canonical SPDI:: NC_000001.11:183942467:C:T
Gene:: COLGALT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.245156/4631 (ALFA)
T=0.066038/14 (Vietnamese)
T=0.085716/1437 (TOMMO)
T=0.086245/158 (Korea1K)
T=0.097194/284 (KOREAN)
T=0.162037/35 (Qatari)
T=0.179419/899 (1000Genomes)
T=0.223579/59179 (TOPMED)
T=0.235111/32854 (GnomAD)
T=0.24/144 (NorthernSweden)
T=0.241741/1083 (Estonian)
T=0.25/10 (GENOME_DK)
T=0.258517/258 (GoNL)
T=0.263754/978 (TWINSUK)
T=0.281785/1086 (ALSPAC)
C=0.432584/77 (SGDP_PRJ)
C=0.466667/14 (Siberian)
HGVS:: NC_000001.11:g.183942468C>T, NC_000001.10:g.183911602C>T

Select item 7346574.

rs734657 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:183943185 (GRCh38)
1:183912319 (GRCh37)
Canonical SPDI:: NC_000001.11:183943184:C:A
Gene:: COLGALT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.242986/4590 (ALFA)
A=0.049127/90 (Korea1K)
A=0.055784/163 (KOREAN)
A=0.059067/990 (TOMMO)
A=0.060185/13 (Vietnamese)
A=0.143519/31 (Qatari)
A=0.173913/56 (HapMap)
A=0.174578/874 (1000Genomes)
A=0.220998/58496 (TOPMED)
A=0.232503/32569 (GnomAD)
A=0.239509/1073 (Estonian)
A=0.24/144 (NorthernSweden)
A=0.25/10 (GENOME_DK)
A=0.251503/251 (GoNL)
A=0.261327/969 (TWINSUK)
A=0.279709/1078 (ALSPAC)
C=0.428571/72 (SGDP_PRJ)
C=0.464286/13 (Siberian)
HGVS:: NC_000001.11:g.183943185C>A, NC_000001.10:g.183912319C>A

Select item 7514105.

rs751410 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:183992197 (GRCh38)
1:183961331 (GRCh37)
Canonical SPDI:: NC_000001.11:183992196:A:G
Gene:: COLGALT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.06928/1502 (ALFA)
G=0.04/24 (NorthernSweden)
G=0.044643/200 (Estonian)
G=0.051102/51 (GoNL)
G=0.055286/205 (TWINSUK)
G=0.06383/246 (ALSPAC)
G=0.076097/10666 (GnomAD)
G=0.088927/23538 (TOPMED)
G=0.09364/106 (Daghestan)
G=0.1/4 (GENOME_DK)
G=0.143519/31 (Qatari)
G=0.151515/50 (HapMap)
G=0.166146/832 (1000Genomes)
G=0.366294/6139 (TOMMO)
G=0.391468/1147 (KOREAN)
G=0.396288/726 (Korea1K)
A=0.418605/72 (SGDP_PRJ)
G=0.429245/91 (Vietnamese)
A=0.45/9 (Siberian)
HGVS:: NC_000001.11:g.183992197A>G, NC_000001.10:g.183961331A>G

Select item 7514116.

rs751411 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:183991772 (GRCh38)
1:183960906 (GRCh37)
Canonical SPDI:: NC_000001.11:183991771:T:C
Gene:: COLGALT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.119907/7663 (ALFA)
C=0.001168/20 (TOMMO)
C=0.001638/3 (Korea1K)
C=0.002738/8 (KOREAN)
C=0.051872/97 (HapMap)
C=0.075/3 (GENOME_DK)
C=0.085103/426 (1000Genomes)
C=0.101167/26778 (TOPMED)
C=0.103089/14450 (GnomAD)
C=0.104908/389 (TWINSUK)
C=0.110535/426 (ALSPAC)
C=0.111222/111 (GoNL)
C=0.115741/25 (Qatari)
C=0.133259/597 (Estonian)
C=0.138333/83 (NorthernSweden)
C=0.317891/199 (Chileans)
T=0.423913/39 (SGDP_PRJ)
T=0.5/6 (Siberian)
HGVS:: NC_000001.11:g.183991772T>C, NC_000001.10:g.183960906T>C

Select item 7514127.

rs751412 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:183991663 (GRCh38)
1:183960797 (GRCh37)
Canonical SPDI:: NC_000001.11:183991662:C:T
Gene:: COLGALT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (HapMap)
T=0.000021/3 (GnomAD)
T=0.00006/16 (TOPMED)
HGVS:: NC_000001.11:g.183991663C>T, NC_000001.10:g.183960797C>T

Select item 7561998.

rs756199 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:184033740 (GRCh38)
1:184002874 (GRCh37)
Canonical SPDI:: NC_000001.11:184033739:A:C,NC_000001.11:184033739:A:G
Gene:: COLGALT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.206904/67222 (ALFA)
G=0.172414/10 (PRJEB36033)
G=0.184821/828 (Estonian)
G=0.186667/112 (NorthernSweden)
G=0.208333/45 (Qatari)
G=0.213948/29942 (GnomAD)
G=0.216139/833 (ALSPAC)
G=0.218716/811 (TWINSUK)
G=0.220409/58340 (TOPMED)
G=0.231463/231 (GoNL)
G=0.246417/19393 (PAGE_STUDY)
G=0.25914/482 (HapMap)
G=0.265303/1329 (1000Genomes)
G=0.275/11 (GENOME_DK)
G=0.283654/590 (HGDP_Stanford)
G=0.38785/83 (Vietnamese)
A=0.397727/105 (SGDP_PRJ)
A=0.4/8 (Siberian)
G=0.423131/7092 (TOMMO)
G=0.478372/376 (PRJEB37584)
A=0.489083/896 (Korea1K)
G=0.496246/1454 (KOREAN)
HGVS:: NC_000001.11:g.184033740A>C, NC_000001.11:g.184033740A>G, NC_000001.10:g.184002874A>C, NC_000001.10:g.184002874A>G

Select item 9434049.

rs943404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:183975650 (GRCh38)
1:183944784 (GRCh37)
Canonical SPDI:: NC_000001.11:183975649:G:A
Gene:: COLGALT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.321122/6066 (ALFA)
G=0.133333/4 (PRJEB36033)
G=0.214429/214 (GoNL)
G=0.225/9 (GENOME_DK)
G=0.231661/859 (TWINSUK)
G=0.23192/1039 (Estonian)
G=0.247276/953 (ALSPAC)
G=0.268333/161 (NorthernSweden)
G=0.29798/118 (SGDP_PRJ)
A=0.350156/5869 (TOMMO)
A=0.362022/1060 (KOREAN)
A=0.364629/668 (Korea1K)
G=0.381584/53424 (GnomAD)
A=0.386792/82 (Vietnamese)
G=0.402778/87 (Qatari)
G=0.404762/17 (Siberian)
G=0.405625/107365 (TOPMED)
A=0.493671/156 (HapMap)
G=0.495315/2481 (1000Genomes)
HGVS:: NC_000001.11:g.183975650G>A, NC_000001.10:g.183944784G>A

Select item 94340510.

rs943405 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:183942329 (GRCh38)
1:183911463 (GRCh37)
Canonical SPDI:: NC_000001.11:183942328:T:A
Gene:: COLGALT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.165255/3121 (ALFA)
A=0.106918/34 (HapMap)
A=0.146667/88 (NorthernSweden)
A=0.160872/22488 (GnomAD)
A=0.172054/45541 (TOPMED)
A=0.17208/862 (1000Genomes)
A=0.194444/42 (Qatari)
A=0.19616/756 (ALSPAC)
A=0.200401/200 (GoNL)
A=0.206041/764 (TWINSUK)
A=0.269651/494 (Korea1K)
A=0.271199/4545 (TOMMO)
A=0.275/11 (GENOME_DK)
A=0.279522/819 (KOREAN)
T=0.43299/84 (SGDP_PRJ)
T=0.5/6 (Siberian)
HGVS:: NC_000001.11:g.183942329T>A, NC_000001.10:g.183911463T>A

Select item 94340611.

rs943406 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:183942345 (GRCh38)
1:183911479 (GRCh37)
Canonical SPDI:: NC_000001.11:183942344:A:G
Gene:: COLGALT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.165255/3121 (ALFA)
G=0.117647/24 (Vietnamese)
G=0.145/87 (NorthernSweden)
G=0.160624/22495 (GnomAD)
G=0.172058/45542 (TOPMED)
G=0.17208/862 (1000Genomes)
G=0.194444/42 (Qatari)
G=0.1959/755 (ALSPAC)
G=0.200401/200 (GoNL)
G=0.205771/763 (TWINSUK)
G=0.269651/494 (Korea1K)
G=0.271199/4545 (TOMMO)
G=0.275/11 (GENOME_DK)
G=0.27884/817 (KOREAN)
A=0.43299/84 (SGDP_PRJ)
A=0.5/6 (Siberian)
HGVS:: NC_000001.11:g.183942345A>G, NC_000001.10:g.183911479A>G

Select item 94340712.

rs943407 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:183942545 (GRCh38)
1:183911679 (GRCh37)
Canonical SPDI:: NC_000001.11:183942544:A:G
Gene:: COLGALT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.165643/3129 (ALFA)
G=0.118902/39 (HapMap)
G=0.135514/29 (Vietnamese)
G=0.13683/613 (Estonian)
G=0.146667/88 (NorthernSweden)
G=0.161278/22598 (GnomAD)
G=0.17208/862 (1000Genomes)
G=0.172345/45618 (TOPMED)
G=0.194444/42 (Qatari)
G=0.196938/759 (ALSPAC)
G=0.200401/200 (GoNL)
G=0.20658/766 (TWINSUK)
G=0.269651/494 (Korea1K)
G=0.271199/4545 (TOMMO)
G=0.275/11 (GENOME_DK)
G=0.280205/821 (KOREAN)
A=0.430693/87 (SGDP_PRJ)
A=0.5/6 (Siberian)
HGVS:: NC_000001.11:g.183942545A>G, NC_000001.10:g.183911679A>G

Select item 94340813.

rs943408 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:183942782 (GRCh38)
1:183911916 (GRCh37)
Canonical SPDI:: NC_000001.11:183942781:A:T
Gene:: COLGALT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000208/3 (ALFA)
T=0./0 (ALSPAC)
T=0./0 (HapMap)
T=0.000113/30 (TOPMED)
T=0.000185/26 (GnomAD)
T=0.000539/2 (TWINSUK)
T=0.000625/3 (1000Genomes)
T=0.001002/1 (GoNL)
HGVS:: NC_000001.11:g.183942782A>T, NC_000001.10:g.183911916A>T

Select item 94340914.

rs943409 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:183942970 (GRCh38)
1:183912104 (GRCh37)
Canonical SPDI:: NC_000001.11:183942969:G:A
Gene:: COLGALT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.165326/3123 (ALFA)
A=0.13683/613 (Estonian)
A=0.138889/30 (Vietnamese)
A=0.146667/88 (NorthernSweden)
A=0.160862/22539 (GnomAD)
A=0.171299/858 (1000Genomes)
A=0.171703/45448 (TOPMED)
A=0.194444/42 (Qatari)
A=0.1959/755 (ALSPAC)
A=0.199399/199 (GoNL)
A=0.206311/765 (TWINSUK)
A=0.269651/494 (Korea1K)
A=0.27127/4546 (TOMMO)
A=0.275/11 (GENOME_DK)
A=0.279181/818 (KOREAN)
G=0.43/86 (SGDP_PRJ)
G=0.5/6 (Siberian)
HGVS:: NC_000001.11:g.183942970G>A, NC_000001.10:g.183912104G>A

Select item 103400615.

rs1034006 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:184035151 (GRCh38)
1:184004285 (GRCh37)
Canonical SPDI:: NC_000001.11:184035150:G:C
Gene:: COLGALT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.184035151G>C, NC_000001.10:g.184004285G>C

Select item 103400716.

rs1034007 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:184035150 (GRCh38)
1:184004284 (GRCh37)
Canonical SPDI:: NC_000001.11:184035149:T:A,NC_000001.11:184035149:T:C
Gene:: COLGALT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.184035150T>A, NC_000001.11:g.184035150T>C, NC_000001.10:g.184004284T>A, NC_000001.10:g.184004284T>C

Select item 103400817.

rs1034008 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:184035149 (GRCh38)
1:184004283 (GRCh37)
Canonical SPDI:: NC_000001.11:184035148:G:T
Gene:: COLGALT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0./0 (SGDP_PRJ)
HGVS:: NC_000001.11:g.184035149G>T, NC_000001.10:g.184004283G>T

Select item 105309218.

rs1053092 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:183936054 (GRCh38)
1:183905188 (GRCh37)
Canonical SPDI:: NC_000001.11:183936053:G:C
Gene:: COLGALT2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.275563/5530 (ALFA)
C=0.15/6 (GENOME_DK)
C=0.262065/1010 (ALSPAC)
C=0.263889/57 (Qatari)
C=0.27941/73957 (TOPMED)
C=0.280599/39285 (GnomAD)
C=0.280744/1041 (TWINSUK)
C=0.296205/1327 (Estonian)
C=0.299599/299 (GoNL)
C=0.313333/188 (NorthernSweden)
C=0.328025/103 (HapMap)
C=0.338226/1694 (1000Genomes)
G=0.356164/104 (SGDP_PRJ)
C=0.403072/1181 (KOREAN)
C=0.412833/6919 (TOMMO)
C=0.418668/767 (Korea1K)
G=0.46875/15 (Siberian)
G=0.495283/105 (Vietnamese)
HGVS:: NC_000001.11:g.183936054G>C, NC_000001.10:g.183905188G>C, NM_015101.4:c.*2707C>G, NM_015101.3:c.*2707C>G, NM_015101.2:c.*2707C>G, NM_001303421.2:c.*2707C>G, NM_001303421.1:c.*2707C>G

Select item 105309319.

rs1053093 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:183935939 (GRCh38)
1:183905073 (GRCh37)
Canonical SPDI:: NC_000001.11:183935938:C:G,NC_000001.11:183935938:C:T
Gene:: COLGALT2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.265777/52695 (ALFA)
T=0.15/6 (GENOME_DK)
T=0.214286/18 (PRJEB36033)
T=0.262325/1011 (ALSPAC)
T=0.263889/57 (Qatari)
T=0.277963/73574 (TOPMED)
T=0.279545/39143 (GnomAD)
T=0.280475/1040 (TWINSUK)
T=0.296652/1329 (Estonian)
T=0.299599/299 (GoNL)
T=0.305291/577 (HapMap)
T=0.313333/188 (NorthernSweden)
T=0.320058/667 (HGDP_Stanford)
T=0.336508/1685 (1000Genomes)
C=0.356164/104 (SGDP_PRJ)
T=0.403413/1182 (KOREAN)
T=0.412727/6917 (TOMMO)
T=0.418668/767 (Korea1K)
C=0.46875/15 (Siberian)
C=0.485981/104 (Vietnamese)
HGVS:: NC_000001.11:g.183935939C>G, NC_000001.11:g.183935939C>T, NC_000001.10:g.183905073C>G, NC_000001.10:g.183905073C>T, NM_015101.4:c.*2822G>C, NM_015101.4:c.*2822G>A, NM_015101.3:c.*2822G>C, NM_015101.3:c.*2822G>A, NM_015101.2:c.*2822G>C, NM_015101.2:c.*2822G>A, NM_001303421.2:c.*2822G>C, NM_001303421.2:c.*2822G>A, NM_001303421.1:c.*2822G>C, NM_001303421.1:c.*2822G>A

Select item 111236320.

rs1112363 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:183936955 (GRCh38)
1:183906089 (GRCh37)
Canonical SPDI:: NC_000001.11:183936954:A:G
Gene:: COLGALT2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.455414/9959 (ALFA)
A=0.24/12 (Siberian)
A=0.289238/129 (SGDP_PRJ)
A=0.418333/251 (NorthernSweden)
A=0.421844/421 (GoNL)
A=0.432278/1666 (ALSPAC)
A=0.435814/1616 (TWINSUK)
A=0.439815/95 (Vietnamese)
A=0.446429/2000 (Estonian)
A=0.455019/63679 (GnomAD)
A=0.455653/2282 (1000Genomes)
A=0.464968/146 (HapMap)
A=0.465628/123247 (TOPMED)
G=0.475/19 (GENOME_DK)
A=0.486111/105 (Qatari)
A=0.492904/903 (Korea1K)
A=0.498976/1462 (KOREAN)
G=0.499965/8379 (TOMMO)
HGVS:: NC_000001.11:g.183936955A>G, NC_000001.10:g.183906089A>G, NM_015101.4:c.*1806T>C, NM_015101.3:c.*1806T>C, NM_015101.2:c.*1806T>C, NM_001303421.2:c.*1806T>C, NM_001303421.1:c.*1806T>C

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