CERKL - SNP

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Select item 10376231.

rs1037623 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:181537304 (GRCh38)
2:182402031 (GRCh37)
Canonical SPDI:: NC_000002.12:181537303:C:G,NC_000002.12:181537303:C:T
Gene:: ITGA4 (Varview), CERKL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.003514/99 (ALFA)
C=0./0 (GENOME_DK)
G=0./0 (KOREAN)
C=0./0 (NorthernSweden)
C=0./0 (Siberian)
C=0./0 (TWINSUK)
C=0./0 (Vietnamese)
C=0.000259/1 (ALSPAC)
C=0.001628/27 (TOMMO)
C=0.001765/19 (ExAC)
C=0.002251/288 (GnomAD_exomes)
C=0.004367/8 (Korea1K)
C=0.007586/1063 (GnomAD)
C=0.007779/2059 (TOPMED)
C=0.008586/43 (1000Genomes)
C=0.008961/5 (SGDP_PRJ)
C=0.009259/2 (Qatari)
HGVS:: NC_000002.12:g.181537304C>G, NC_000002.12:g.181537304C>T, NC_000002.11:g.182402031C>G, NC_000002.11:g.182402031C>T, NG_021178.2:g.124804G>C, NG_021178.2:g.124804G>A, NM_201548.5:c.*880G>C, NM_201548.5:c.*880G>A, NM_201548.4:c.*880G>C, NM_201548.4:c.*880G>A, NM_001030311.3:c.*880G>C, NM_001030311.3:c.*880G>A, NM_001030311.2:c.*880G>C, NM_001030311.2:c.*880G>A, NM_001030313.3:c.*880G>C, NM_001030313.3:c.*880G>A, NM_001030313.2:c.*880G>C, NM_001030313.2:c.*880G>A, NM_001030312.3:c.*880G>C, NM_001030312.3:c.*880G>A, NM_001030312.2:c.*880G>C, NM_001030312.2:c.*880G>A, NM_001160277.2:c.*880G>C, NM_001160277.2:c.*880G>A, NM_001160277.1:c.*880G>C, NM_001160277.1:c.*880G>A, NR_027690.2:n.2514G>C, NR_027690.2:n.2514G>A, NR_027690.1:n.2516G>C, NR_027690.1:n.2516G>A, NR_027689.2:n.2382G>C, NR_027689.2:n.2382G>A, NR_027689.1:n.2384G>C, NR_027689.1:n.2384G>A, NG_050623.1:g.85413C>G, NG_050623.1:g.85413C>T, NM_000885.6:c.*1777C>G, NM_000885.6:c.*1777C>T, NM_000885.5:c.*1777C>G, NM_000885.5:c.*1777C>T, NM_000885.4:c.*1777C>G, NM_000885.4:c.*1777C>T

Select item 10473072.

rs1047307 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 2:181537025 (GRCh38)
2:182401752 (GRCh37)
Canonical SPDI:: NC_000002.12:181537024:G:A,NC_000002.12:181537024:G:C,NC_000002.12:181537024:G:T
Gene:: ITGA4 (Varview), CERKL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.339279/36309 (ALFA)
A=0.25641/20 (PRJEB36033)
A=0.275/11 (GENOME_DK)
A=0.29/174 (NorthernSweden)
A=0.316417/24902 (PAGE_STUDY)
A=0.319444/69 (Qatari)
A=0.320148/84740 (TOPMED)
A=0.340402/1525 (Estonian)
G=0.342105/13 (Siberian)
A=0.344318/1327 (ALSPAC)
G=0.345455/114 (SGDP_PRJ)
A=0.346693/346 (GoNL)
A=0.353594/669 (HapMap)
A=0.357258/73265 (GENOGRAPHIC)
A=0.357875/1327 (TWINSUK)
A=0.371643/1861 (1000Genomes)
A=0.408921/49715 (GnomAD_exomes)
A=0.423704/883 (HGDP_Stanford)
G=0.440896/4155 (ExAC)
G=0.448598/96 (Vietnamese)
A=0.462167/7746 (TOMMO)
A=0.475085/1392 (KOREAN)
A=0.477074/874 (Korea1K)
G=0.484043/546 (Daghestan)
HGVS:: NC_000002.12:g.181537025G>A, NC_000002.12:g.181537025G>C, NC_000002.12:g.181537025G>T, NC_000002.11:g.182401752G>A, NC_000002.11:g.182401752G>C, NC_000002.11:g.182401752G>T, NG_021178.2:g.125083C>T, NG_021178.2:g.125083C>G, NG_021178.2:g.125083C>A, NM_201548.5:c.*1159C>T, NM_201548.5:c.*1159C>G, NM_201548.5:c.*1159C>A, NM_201548.4:c.*1159C>T, NM_201548.4:c.*1159C>G, NM_201548.4:c.*1159C>A, NM_001030311.3:c.*1159C>T, NM_001030311.3:c.*1159C>G, NM_001030311.3:c.*1159C>A, NM_001030311.2:c.*1159C>T, NM_001030311.2:c.*1159C>G, NM_001030311.2:c.*1159C>A, NM_001030313.3:c.*1159C>T, NM_001030313.3:c.*1159C>G, NM_001030313.3:c.*1159C>A, NM_001030313.2:c.*1159C>T, NM_001030313.2:c.*1159C>G, NM_001030313.2:c.*1159C>A, NM_001030312.3:c.*1159C>T, NM_001030312.3:c.*1159C>G, NM_001030312.3:c.*1159C>A, NM_001030312.2:c.*1159C>T, NM_001030312.2:c.*1159C>G, NM_001030312.2:c.*1159C>A, NM_001160277.2:c.*1159C>T, NM_001160277.2:c.*1159C>G, NM_001160277.2:c.*1159C>A, NM_001160277.1:c.*1159C>T, NM_001160277.1:c.*1159C>G, NM_001160277.1:c.*1159C>A, NR_027690.2:n.2793C>T, NR_027690.2:n.2793C>G, NR_027690.2:n.2793C>A, NR_027690.1:n.2795C>T, NR_027690.1:n.2795C>G, NR_027690.1:n.2795C>A, NR_027689.2:n.2661C>T, NR_027689.2:n.2661C>G, NR_027689.2:n.2661C>A, NR_027689.1:n.2663C>T, NR_027689.1:n.2663C>G, NR_027689.1:n.2663C>A, NG_050623.1:g.85134G>A, NG_050623.1:g.85134G>C, NG_050623.1:g.85134G>T, NM_000885.6:c.*1498G>A, NM_000885.6:c.*1498G>C, NM_000885.6:c.*1498G>T, NM_000885.5:c.*1498G>A, NM_000885.5:c.*1498G>C, NM_000885.5:c.*1498G>T, NM_000885.4:c.*1498G>A, NM_000885.4:c.*1498G>C, NM_000885.4:c.*1498G>T

Select item 14732953.

rs1473295 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:181656851 (GRCh38)
2:182521578 (GRCh37)
Canonical SPDI:: NC_000002.12:181656850:G:A,NC_000002.12:181656850:G:C
Gene:: CERKL (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.47061/124338 (ALFA)
A=0.005618/3 (MGP)
G=0.25/11 (Siberian)
G=0.255946/4290 (TOMMO)
G=0.256962/203 (PRJEB37584)
G=0.262474/768 (KOREAN)
G=0.293839/124 (SGDP_PRJ)
A=0.35/14 (GENOME_DK)
G=0.353464/199 (Vietnamese)
A=0.386667/116 (FINRISK)
A=0.4/240 (NorthernSweden)
A=0.40203/5228 (GoESP)
A=0.421776/111640 (TOPMED)
A=0.428947/33759 (PAGE_STUDY)
A=0.442411/1982 (Estonian)
A=0.448148/847 (HapMap)
A=0.458333/99 (Qatari)
A=0.471683/1749 (TWINSUK)
A=0.471718/1818 (ALSPAC)
G=0.47238/113391 (GnomAD_exomes)
G=0.474286/55684 (ExAC)
A=0.488978/488 (GoNL)
A=0.498907/2499 (1000Genomes)
HGVS:: NC_000002.12:g.181656851G>A, NC_000002.12:g.181656851G>C, NC_000002.11:g.182521578G>A, NC_000002.11:g.182521578G>C, NG_021178.2:g.5257C>T, NG_021178.2:g.5257C>G, NM_201548.5:c.156C>T, NM_201548.5:c.156C>G, NM_201548.4:c.156C>T, NM_201548.4:c.156C>G, NM_001030311.3:c.156C>T, NM_001030311.3:c.156C>G, NM_001030311.2:c.156C>T, NM_001030311.2:c.156C>G, NM_001030313.3:c.156C>T, NM_001030313.3:c.156C>G, NM_001030313.2:c.156C>T, NM_001030313.2:c.156C>G, NM_001030312.3:c.156C>T, NM_001030312.3:c.156C>G, NM_001030312.2:c.156C>T, NM_001030312.2:c.156C>G, NM_001160277.2:c.156C>T, NM_001160277.2:c.156C>G, NM_001160277.1:c.156C>T, NM_001160277.1:c.156C>G, NR_027690.2:n.255C>T, NR_027690.2:n.255C>G, NR_027690.1:n.257C>T, NR_027690.1:n.257C>G, NR_027689.2:n.255C>T, NR_027689.2:n.255C>G, NR_027689.1:n.257C>T, NR_027689.1:n.257C>G, NM_001030315.1:c.156C>T, NM_001030315.1:c.156C>G, NM_001030314.1:c.156C>T, NM_001030314.1:c.156C>G, NP_963842.1:p.Phe52Leu, NP_001025482.1:p.Phe52Leu, NP_001025484.1:p.Phe52Leu, NP_001025483.1:p.Phe52Leu, NP_001153749.1:p.Phe52Leu

Select item 23682134.

rs2368213 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:181536661 (GRCh38)
2:182401388 (GRCh37)
Canonical SPDI:: NC_000002.12:181536660:C:A,NC_000002.12:181536660:C:T
Gene:: ITGA4 (Varview), CERKL (Varview)
Functional Consequence:: 500B_downstream_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.007396/227 (ALFA)
T=0.000142/2 (TOMMO)
T=0.003936/30 (GnomAD_exomes)
T=0.025771/3598 (GnomAD)
T=0.027137/7183 (TOPMED)
T=0.027778/6 (Qatari)
T=0.030351/152 (1000Genomes)
T=0.046296/10 (Vietnamese)
C=0.416667/5 (SGDP_PRJ)
HGVS:: NC_000002.12:g.181536661C>A, NC_000002.12:g.181536661C>T, NC_000002.11:g.182401388C>A, NC_000002.11:g.182401388C>T, NG_021178.2:g.125447G>T, NG_021178.2:g.125447G>A, NG_050623.1:g.84770C>A, NG_050623.1:g.84770C>T, NM_000885.6:c.*1134C>A, NM_000885.6:c.*1134C>T, NM_000885.5:c.*1134C>A, NM_000885.5:c.*1134C>T, NM_000885.4:c.*1134C>A, NM_000885.4:c.*1134C>T

Select item 23682145.

rs2368214 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 2:181536839 (GRCh38)
2:182401566 (GRCh37)
Canonical SPDI:: NC_000002.12:181536838:C:A,NC_000002.12:181536838:C:G,NC_000002.12:181536838:C:T
Gene:: ITGA4 (Varview), CERKL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.003483/98 (ALFA)
C=0./0 (GENOME_DK)
A=0./0 (KOREAN)
C=0./0 (Korea1K)
C=0./0 (NorthernSweden)
C=0./0 (PRJEB36033)
C=0./0 (Siberian)
C=0./0 (TWINSUK)
C=0./0 (Vietnamese)
C=0.000035/1 (TOMMO)
C=0.000259/1 (ALSPAC)
C=0.001741/15 (ExAC)
C=0.001964/194 (GnomAD_exomes)
C=0.007462/1046 (GnomAD)
C=0.007752/2052 (TOPMED)
C=0.007964/40 (1000Genomes)
C=0.008961/5 (SGDP_PRJ)
C=0.009259/2 (Qatari)
HGVS:: NC_000002.12:g.181536839C>A, NC_000002.12:g.181536839C>G, NC_000002.12:g.181536839C>T, NC_000002.11:g.182401566C>A, NC_000002.11:g.182401566C>G, NC_000002.11:g.182401566C>T, NG_021178.2:g.125269G>T, NG_021178.2:g.125269G>C, NG_021178.2:g.125269G>A, NM_201548.5:c.*1345G>T, NM_201548.5:c.*1345G>C, NM_201548.5:c.*1345G>A, NM_201548.4:c.*1345G>T, NM_201548.4:c.*1345G>C, NM_201548.4:c.*1345G>A, NM_001030311.3:c.*1345G>T, NM_001030311.3:c.*1345G>C, NM_001030311.3:c.*1345G>A, NM_001030311.2:c.*1345G>T, NM_001030311.2:c.*1345G>C, NM_001030311.2:c.*1345G>A, NM_001030313.3:c.*1345G>T, NM_001030313.3:c.*1345G>C, NM_001030313.3:c.*1345G>A, NM_001030313.2:c.*1345G>T, NM_001030313.2:c.*1345G>C, NM_001030313.2:c.*1345G>A, NM_001030312.3:c.*1345G>T, NM_001030312.3:c.*1345G>C, NM_001030312.3:c.*1345G>A, NM_001030312.2:c.*1345G>T, NM_001030312.2:c.*1345G>C, NM_001030312.2:c.*1345G>A, NM_001160277.2:c.*1345G>T, NM_001160277.2:c.*1345G>C, NM_001160277.2:c.*1345G>A, NM_001160277.1:c.*1345G>T, NM_001160277.1:c.*1345G>C, NM_001160277.1:c.*1345G>A, NR_027690.2:n.2979G>T, NR_027690.2:n.2979G>C, NR_027690.2:n.2979G>A, NR_027690.1:n.2981G>T, NR_027690.1:n.2981G>C, NR_027690.1:n.2981G>A, NR_027689.2:n.2847G>T, NR_027689.2:n.2847G>C, NR_027689.2:n.2847G>A, NR_027689.1:n.2849G>T, NR_027689.1:n.2849G>C, NR_027689.1:n.2849G>A, NG_050623.1:g.84948C>A, NG_050623.1:g.84948C>G, NG_050623.1:g.84948C>T, NM_000885.6:c.*1312C>A, NM_000885.6:c.*1312C>G, NM_000885.6:c.*1312C>T, NM_000885.5:c.*1312C>A, NM_000885.5:c.*1312C>G, NM_000885.5:c.*1312C>T, NM_000885.4:c.*1312C>A, NM_000885.4:c.*1312C>G, NM_000885.4:c.*1312C>T

Select item 64339236.

rs6433923 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 2:181604091 (GRCh38)
2:182468818 (GRCh37)
Canonical SPDI:: NC_000002.12:181604090:A:C,NC_000002.12:181604090:A:T
Gene:: CERKL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.065789/1580 (ALFA)
T=0.031062/31 (GoNL)
T=0.070119/260 (TWINSUK)
T=0.079917/308 (ALSPAC)
T=0.082397/44 (MGP)
T=0.08683/389 (Estonian)
T=0.095/57 (NorthernSweden)
T=0.1/4 (GENOME_DK)
T=0.102649/31 (FINRISK)
T=0.109172/319 (KOREAN)
T=0.1119/205 (Korea1K)
T=0.117993/1978 (TOMMO)
T=0.138246/33265 (GnomAD_exomes)
T=0.160197/16062 (ExAC)
T=0.180556/39 (Qatari)
T=0.226625/2928 (GoESP)
T=0.253523/67105 (TOPMED)
T=0.282324/1414 (1000Genomes)
A=0.383333/69 (SGDP_PRJ)
A=0.5/4 (Siberian)
HGVS:: NC_000002.12:g.181604091A>C, NC_000002.12:g.181604091A>T, NC_000002.11:g.182468818A>C, NC_000002.11:g.182468818A>T, NG_021178.2:g.58017T>G, NG_021178.2:g.58017T>A

Select item 64339247.

rs6433924 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:181604128 (GRCh38)
2:182468855 (GRCh37)
Canonical SPDI:: NC_000002.12:181604127:A:G
Gene:: CERKL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.145213/4059 (ALFA)
G=0.070119/260 (TWINSUK)
G=0.079917/308 (ALSPAC)
G=0.080189/17 (Vietnamese)
G=0.080524/43 (MGP)
G=0.08517/85 (GoNL)
G=0.086607/388 (Estonian)
G=0.095/57 (NorthernSweden)
G=0.1/4 (GENOME_DK)
G=0.109514/320 (KOREAN)
G=0.1119/205 (Korea1K)
G=0.117957/1977 (TOMMO)
G=0.138979/28974 (GnomAD_exomes)
G=0.1504/11921 (ExAC)
G=0.180556/39 (Qatari)
G=0.212661/2637 (GoESP)
G=0.241459/33812 (GnomAD)
G=0.253531/67107 (TOPMED)
G=0.282324/1414 (1000Genomes)
A=0.383333/69 (SGDP_PRJ)
A=0.5/4 (Siberian)
HGVS:: NC_000002.12:g.181604128A>G, NC_000002.11:g.182468855A>G, NG_021178.2:g.57980T>C

Select item 67475008.

rs6747500 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:181538063 (GRCh38)
2:182402790 (GRCh37)
Canonical SPDI:: NC_000002.12:181538062:G:A
Gene:: ITGA4 (Varview), CERKL (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.318925/8891 (ALFA)
G=0.163551/35 (Vietnamese)
G=0.172014/504 (KOREAN)
G=0.175472/93 (SGDP_PRJ)
G=0.176423/2957 (TOMMO)
G=0.178571/10 (Siberian)
G=0.231115/6529 (ExAC)
G=0.23579/1181 (1000Genomes)
G=0.263021/42562 (GnomAD_exomes)
G=0.303634/80369 (TOPMED)
G=0.310185/67 (Qatari)
G=0.310678/43462 (GnomAD)
G=0.323884/1451 (Estonian)
G=0.325651/325 (GoNL)
G=0.339128/1307 (ALSPAC)
G=0.341694/1267 (TWINSUK)
G=0.356667/214 (NorthernSweden)
G=0.4/16 (GENOME_DK)
G=0.47191/252 (MGP)
HGVS:: NC_000002.12:g.181538063G>A, NC_000002.11:g.182402790G>A, NG_021178.2:g.124045C>T, NM_201548.5:c.*121C>T, NM_201548.4:c.*121C>T, NM_001030311.3:c.*121C>T, NM_001030311.2:c.*121C>T, NM_001030313.3:c.*121C>T, NM_001030313.2:c.*121C>T, NM_001030312.3:c.*121C>T, NM_001030312.2:c.*121C>T, NM_001160277.2:c.*121C>T, NM_001160277.1:c.*121C>T, NR_027690.2:n.1755C>T, NR_027690.1:n.1757C>T, NR_027689.2:n.1623C>T, NR_027689.1:n.1625C>T, NG_050623.1:g.86172G>A, NM_000885.6:c.*2536G>A, NM_000885.5:c.*2536G>A

Select item 76049029.

rs7604902 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:181565393 (GRCh38)
2:182430120 (GRCh37)
Canonical SPDI:: NC_000002.12:181565392:C:A,NC_000002.12:181565392:C:T
Gene:: CERKL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.177203/7226 (ALFA)
A=0.079439/17 (Vietnamese)
A=0.123203/360 (KOREAN)
A=0.123362/226 (Korea1K)
A=0.138661/2324 (TOMMO)
A=0.15/6 (GENOME_DK)
A=0.17603/94 (MGP)
A=0.18069/670 (TWINSUK)
A=0.186667/112 (NorthernSweden)
A=0.191383/191 (GoNL)
A=0.191741/859 (Estonian)
A=0.198755/766 (ALSPAC)
A=0.242211/2861 (GoESP)
A=0.248511/34795 (GnomAD)
A=0.252847/66926 (TOPMED)
A=0.252967/1267 (1000Genomes)
A=0.259259/490 (HapMap)
A=0.296296/64 (Qatari)
C=0.417476/86 (SGDP_PRJ)
C=0.5/8 (Siberian)
HGVS:: NC_000002.12:g.181565393C>A, NC_000002.12:g.181565393C>T, NC_000002.11:g.182430120C>A, NC_000002.11:g.182430120C>T, NG_021178.2:g.96715G>T, NG_021178.2:g.96715G>A

Select item 1018079310.

rs10180793 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 2:181539124 (GRCh38)
2:182403851 (GRCh37)
Canonical SPDI:: NC_000002.12:181539123:G:A,NC_000002.12:181539123:G:C,NC_000002.12:181539123:G:T
Gene:: ITGA4 (Varview), CERKL (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant,500B_downstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000991/202 (ALFA)
G=0./0 (FINRISK)
G=0./0 (GENOME_DK)
C=0./0 (KOREAN)
G=0./0 (Korea1K)
G=0./0 (NorthernSweden)
G=0./0 (Siberian)
G=0./0 (TOMMO)
G=0./0 (TWINSUK)
G=0./0 (Vietnamese)
G=0.000259/1 (ALSPAC)
G=0.001263/1 (PRJEB37584)
G=0.001873/1 (MGP)
G=0.002073/521 (GnomAD_exomes)
G=0.002521/306 (ExAC)
G=0.006766/88 (GoESP)
G=0.007711/1081 (GnomAD)
G=0.008115/2148 (TOPMED)
G=0.008432/42 (1000Genomes)
G=0.008961/5 (SGDP_PRJ)
G=0.009259/2 (Qatari)
G=0.011144/877 (PAGE_STUDY)
HGVS:: NC_000002.12:g.181539124G>A, NC_000002.12:g.181539124G>C, NC_000002.12:g.181539124G>T, NC_000002.11:g.182403851G>A, NC_000002.11:g.182403851G>C, NC_000002.11:g.182403851G>T, NG_021178.2:g.122984C>T, NG_021178.2:g.122984C>G, NG_021178.2:g.122984C>A, NM_201548.5:c.1506C>T, NM_201548.5:c.1506C>G, NM_201548.5:c.1506C>A, NM_201548.4:c.1506C>T, NM_201548.4:c.1506C>G, NM_201548.4:c.1506C>A, NM_001030311.3:c.1584C>T, NM_001030311.3:c.1584C>G, NM_001030311.3:c.1584C>A, NM_001030311.2:c.1584C>T, NM_001030311.2:c.1584C>G, NM_001030311.2:c.1584C>A, NM_001030313.3:c.1299C>T, NM_001030313.3:c.1299C>G, NM_001030313.3:c.1299C>A, NM_001030313.2:c.1299C>T, NM_001030313.2:c.1299C>G, NM_001030313.2:c.1299C>A, NM_001030312.3:c.1167C>T, NM_001030312.3:c.1167C>G, NM_001030312.3:c.1167C>A, NM_001030312.2:c.1167C>T, NM_001030312.2:c.1167C>G, NM_001030312.2:c.1167C>A, NM_001160277.2:c.1452C>T, NM_001160277.2:c.1452C>G, NM_001160277.2:c.1452C>A, NM_001160277.1:c.1452C>T, NM_001160277.1:c.1452C>G, NM_001160277.1:c.1452C>A, NR_027690.2:n.1541C>T, NR_027690.2:n.1541C>G, NR_027690.2:n.1541C>A, NR_027690.1:n.1543C>T, NR_027690.1:n.1543C>G, NR_027690.1:n.1543C>A, NR_027689.2:n.1409C>T, NR_027689.2:n.1409C>G, NR_027689.2:n.1409C>A, NR_027689.1:n.1411C>T, NR_027689.1:n.1411C>G, NR_027689.1:n.1411C>A, NG_050623.1:g.87233G>A, NG_050623.1:g.87233G>C, NG_050623.1:g.87233G>T, NM_001030315.1:c.*788C>T, NM_001030315.1:c.*788C>G, NM_001030315.1:c.*788C>A, NM_001030314.1:c.*788C>T, NM_001030314.1:c.*788C>G, NM_001030314.1:c.*788C>A, NP_963842.1:p.Asp502Glu, NP_963842.1:p.Asp502Glu, NP_001025482.1:p.Asp528Glu, NP_001025482.1:p.Asp528Glu, NP_001025484.1:p.Asp433Glu, NP_001025484.1:p.Asp433Glu, NP_001025483.1:p.Asp389Glu, NP_001025483.1:p.Asp389Glu, NP_001153749.1:p.Asp484Glu, NP_001153749.1:p.Asp484Glu

Select item 1018526211.

rs10185262 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:181565492 (GRCh38)
2:182430219 (GRCh37)
Canonical SPDI:: NC_000002.12:181565491:C:A,NC_000002.12:181565491:C:T
Gene:: CERKL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant,intron_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000639/179 (ALFA)
A=0.002001/495 (GnomAD_exomes)
A=0.002465/296 (ExAC)
A=0.00463/1 (Qatari)
A=0.006965/83 (GoESP)
A=0.00821/1151 (GnomAD)
A=0.009838/49 (1000Genomes)
A=0.011905/20 (HapMap)
A=0.013266/1044 (PAGE_STUDY)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000002.12:g.181565492C>A, NC_000002.12:g.181565492C>T, NC_000002.11:g.182430219C>A, NC_000002.11:g.182430219C>T, NG_021178.2:g.96616G>T, NG_021178.2:g.96616G>A, NM_001030311.3:c.696G>T, NM_001030311.3:c.696G>A, NM_001030311.2:c.696G>T, NM_001030311.2:c.696G>A, NM_001160277.2:c.564G>T, NM_001160277.2:c.564G>A, NM_001160277.1:c.564G>T, NM_001160277.1:c.564G>A, NP_001025482.1:p.Leu232Phe, NP_001153749.1:p.Leu188Phe

Select item 1049069012.

rs10490690 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:181537617 (GRCh38)
2:182402344 (GRCh37)
Canonical SPDI:: NC_000002.12:181537616:A:G
Gene:: ITGA4 (Varview), CERKL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.001099/42 (ALFA)
G=0./0 (PRJEB36033)
G=0.001791/251 (GnomAD)
G=0.00188/15 (ExAC)
G=0.002939/778 (TOPMED)
G=0.004018/18 (Estonian)
G=0.005477/584 (GnomAD_exomes)
G=0.010462/52 (1000Genomes)
G=0.012195/4 (HapMap)
G=0.025941/435 (TOMMO)
G=0.043121/126 (KOREAN)
G=0.055556/12 (Vietnamese)
A=0.5/1 (Siberian)
A=0.5/5 (SGDP_PRJ)
HGVS:: NC_000002.12:g.181537617A>G, NC_000002.11:g.182402344A>G, NG_021178.2:g.124491T>C, NM_201548.5:c.*567T>C, NM_201548.4:c.*567T>C, NM_001030311.3:c.*567T>C, NM_001030311.2:c.*567T>C, NM_001030313.3:c.*567T>C, NM_001030313.2:c.*567T>C, NM_001030312.3:c.*567T>C, NM_001030312.2:c.*567T>C, NM_001160277.2:c.*567T>C, NM_001160277.1:c.*567T>C, NR_027690.2:n.2201T>C, NR_027690.1:n.2203T>C, NR_027689.2:n.2069T>C, NR_027689.1:n.2071T>C, NG_050623.1:g.85726A>G, NM_000885.6:c.*2090A>G, NM_000885.5:c.*2090A>G, NM_000885.4:c.*2090A>G

Select item 1155335513.

rs11553355 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:181536860 (GRCh38)
2:182401587 (GRCh37)
Canonical SPDI:: NC_000002.12:181536859:C:T
Gene:: ITGA4 (Varview), CERKL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.020944/590 (ALFA)
T=0.004528/23 (1000Genomes)
T=0.004891/43 (ExAC)
T=0.013333/8 (NorthernSweden)
T=0.014965/17 (Daghestan)
T=0.015345/1764 (GnomAD_exomes)
T=0.01682/4452 (TOPMED)
T=0.016964/76 (Estonian)
T=0.017413/2437 (GnomAD)
T=0.02505/25 (GoNL)
T=0.026969/100 (TWINSUK)
T=0.027778/6 (Qatari)
T=0.029061/112 (ALSPAC)
C=0.5/4 (SGDP_PRJ)
HGVS:: NC_000002.12:g.181536860C>T, NC_000002.11:g.182401587C>T, NG_021178.2:g.125248G>A, NM_201548.5:c.*1324G>A, NM_201548.4:c.*1324G>A, NM_001030311.3:c.*1324G>A, NM_001030311.2:c.*1324G>A, NM_001030313.3:c.*1324G>A, NM_001030313.2:c.*1324G>A, NM_001030312.3:c.*1324G>A, NM_001030312.2:c.*1324G>A, NM_001160277.2:c.*1324G>A, NM_001160277.1:c.*1324G>A, NR_027690.2:n.2958G>A, NR_027690.1:n.2960G>A, NR_027689.2:n.2826G>A, NR_027689.1:n.2828G>A, NG_050623.1:g.84969C>T, NM_000885.6:c.*1333C>T, NM_000885.5:c.*1333C>T, NM_000885.4:c.*1333C>T

Select item 1155335614.

rs11553356 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 2:181537230 (GRCh38)
2:182401957 (GRCh37)
Canonical SPDI:: NC_000002.12:181537229:G:A,NC_000002.12:181537229:G:C,NC_000002.12:181537229:G:T
Gene:: ITGA4 (Varview), CERKL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.120438/4891 (ALFA)
T=0.05907/635 (ExAC)
T=0.101852/22 (Qatari)
T=0.108684/403 (TWINSUK)
T=0.108978/420 (ALSPAC)
T=0.126253/126 (GoNL)
T=0.137946/618 (Estonian)
T=0.155393/41131 (TOPMED)
T=0.156307/21818 (GnomAD)
T=0.16/96 (NorthernSweden)
T=0.171924/861 (1000Genomes)
T=0.175/7 (GENOME_DK)
T=0.188679/40 (Vietnamese)
T=0.199576/15705 (PAGE_STUDY)
T=0.217249/398 (Korea1K)
T=0.223361/654 (KOREAN)
T=0.229367/3844 (TOMMO)
G=0.409091/9 (Siberian)
G=0.412088/75 (SGDP_PRJ)
HGVS:: NC_000002.12:g.181537230G>A, NC_000002.12:g.181537230G>C, NC_000002.12:g.181537230G>T, NC_000002.11:g.182401957G>A, NC_000002.11:g.182401957G>C, NC_000002.11:g.182401957G>T, NG_021178.2:g.124878C>T, NG_021178.2:g.124878C>G, NG_021178.2:g.124878C>A, NM_201548.5:c.*954C>T, NM_201548.5:c.*954C>G, NM_201548.5:c.*954C>A, NM_201548.4:c.*954C>T, NM_201548.4:c.*954C>G, NM_201548.4:c.*954C>A, NM_001030311.3:c.*954C>T, NM_001030311.3:c.*954C>G, NM_001030311.3:c.*954C>A, NM_001030311.2:c.*954C>T, NM_001030311.2:c.*954C>G, NM_001030311.2:c.*954C>A, NM_001030313.3:c.*954C>T, NM_001030313.3:c.*954C>G, NM_001030313.3:c.*954C>A, NM_001030313.2:c.*954C>T, NM_001030313.2:c.*954C>G, NM_001030313.2:c.*954C>A, NM_001030312.3:c.*954C>T, NM_001030312.3:c.*954C>G, NM_001030312.3:c.*954C>A, NM_001030312.2:c.*954C>T, NM_001030312.2:c.*954C>G, NM_001030312.2:c.*954C>A, NM_001160277.2:c.*954C>T, NM_001160277.2:c.*954C>G, NM_001160277.2:c.*954C>A, NM_001160277.1:c.*954C>T, NM_001160277.1:c.*954C>G, NM_001160277.1:c.*954C>A, NR_027690.2:n.2588C>T, NR_027690.2:n.2588C>G, NR_027690.2:n.2588C>A, NR_027690.1:n.2590C>T, NR_027690.1:n.2590C>G, NR_027690.1:n.2590C>A, NR_027689.2:n.2456C>T, NR_027689.2:n.2456C>G, NR_027689.2:n.2456C>A, NR_027689.1:n.2458C>T, NR_027689.1:n.2458C>G, NR_027689.1:n.2458C>A, NG_050623.1:g.85339G>A, NG_050623.1:g.85339G>C, NG_050623.1:g.85339G>T, NM_000885.6:c.*1703G>A, NM_000885.6:c.*1703G>C, NM_000885.6:c.*1703G>T, NM_000885.5:c.*1703G>A, NM_000885.5:c.*1703G>C, NM_000885.5:c.*1703G>T, NM_000885.4:c.*1703G>A, NM_000885.4:c.*1703G>C, NM_000885.4:c.*1703G>T

Select item 1261418715.

rs12614187 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:181537764 (GRCh38)
2:182402491 (GRCh37)
Canonical SPDI:: NC_000002.12:181537763:C:A,NC_000002.12:181537763:C:T
Gene:: ITGA4 (Varview), CERKL (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.09852/3689 (ALFA)
T=0.069947/607 (ExAC)
T=0.101852/22 (Qatari)
T=0.108199/417 (ALSPAC)
T=0.108684/403 (TWINSUK)
T=0.126253/126 (GoNL)
T=0.135582/16531 (GnomAD_exomes)
T=0.155397/41132 (TOPMED)
T=0.156193/21843 (GnomAD)
T=0.16/96 (NorthernSweden)
T=0.16873/845 (1000Genomes)
T=0.172967/302 (HapMap)
T=0.175/7 (GENOME_DK)
T=0.194444/42 (Vietnamese)
T=0.217249/398 (Korea1K)
T=0.223208/654 (KOREAN)
T=0.229367/3844 (TOMMO)
C=0.409091/9 (Siberian)
C=0.412088/75 (SGDP_PRJ)
HGVS:: NC_000002.12:g.181537764C>A, NC_000002.12:g.181537764C>T, NC_000002.11:g.182402491C>A, NC_000002.11:g.182402491C>T, NG_021178.2:g.124344G>T, NG_021178.2:g.124344G>A, NM_201548.5:c.*420G>T, NM_201548.5:c.*420G>A, NM_201548.4:c.*420G>T, NM_201548.4:c.*420G>A, NM_001030311.3:c.*420G>T, NM_001030311.3:c.*420G>A, NM_001030311.2:c.*420G>T, NM_001030311.2:c.*420G>A, NM_001030313.3:c.*420G>T, NM_001030313.3:c.*420G>A, NM_001030313.2:c.*420G>T, NM_001030313.2:c.*420G>A, NM_001030312.3:c.*420G>T, NM_001030312.3:c.*420G>A, NM_001030312.2:c.*420G>T, NM_001030312.2:c.*420G>A, NM_001160277.2:c.*420G>T, NM_001160277.2:c.*420G>A, NM_001160277.1:c.*420G>T, NM_001160277.1:c.*420G>A, NR_027690.2:n.2054G>T, NR_027690.2:n.2054G>A, NR_027690.1:n.2056G>T, NR_027690.1:n.2056G>A, NR_027689.2:n.1922G>T, NR_027689.2:n.1922G>A, NR_027689.1:n.1924G>T, NR_027689.1:n.1924G>A, NG_050623.1:g.85873C>A, NG_050623.1:g.85873C>T, NM_000885.6:c.*2237C>A, NM_000885.6:c.*2237C>T, NM_000885.5:c.*2237C>A, NM_000885.5:c.*2237C>T

Select item 1262368716.

rs12623687 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 2:181549631 (GRCh38)
2:182414358 (GRCh37)
Canonical SPDI:: NC_000002.12:181549630:T:A,NC_000002.12:181549630:T:C,NC_000002.12:181549630:T:G
Gene:: CERKL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.119487/6248 (ALFA)
G=0./0 (KOREAN)
C=0.09176/49 (MGP)
C=0.106481/23 (Qatari)
C=0.116502/449 (ALSPAC)
C=0.117044/434 (TWINSUK)
C=0.122943/1599 (GoESP)
C=0.131805/15946 (ExAC)
C=0.136616/36161 (TOPMED)
C=0.137651/34509 (GnomAD_exomes)
C=0.138277/138 (GoNL)
C=0.139882/19600 (GnomAD)
C=0.148345/743 (1000Genomes)
C=0.161384/723 (Estonian)
C=0.168333/101 (NorthernSweden)
C=0.2/8 (GENOME_DK)
C=0.213816/65 (FINRISK)
C=0.218341/400 (Korea1K)
C=0.221311/135 (Vietnamese)
C=0.229226/3842 (TOMMO)
T=0.413793/72 (SGDP_PRJ)
T=0.416667/10 (Siberian)
HGVS:: NC_000002.12:g.181549631T>A, NC_000002.12:g.181549631T>C, NC_000002.12:g.181549631T>G, NC_000002.11:g.182414358T>A, NC_000002.11:g.182414358T>C, NC_000002.11:g.182414358T>G, NG_021178.2:g.112477A>T, NG_021178.2:g.112477A>G, NG_021178.2:g.112477A>C

Select item 1262373717.

rs12623737 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:181549795 (GRCh38)
2:182414522 (GRCh37)
Canonical SPDI:: NC_000002.12:181549794:T:G
Gene:: CERKL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.134181/4030 (ALFA)
G=0.09176/49 (MGP)
G=0.106481/23 (Qatari)
G=0.116502/449 (ALSPAC)
G=0.117314/435 (TWINSUK)
G=0.13738/86 (Chileans)
G=0.138277/138 (GoNL)
G=0.138369/36625 (TOPMED)
G=0.141541/19833 (GnomAD)
G=0.14482/274 (HapMap)
G=0.149438/748 (1000Genomes)
G=0.161161/722 (Estonian)
G=0.168333/101 (NorthernSweden)
G=0.191589/41 (Vietnamese)
G=0.2/8 (GENOME_DK)
G=0.218341/400 (Korea1K)
G=0.224915/659 (KOREAN)
G=0.229296/3843 (TOMMO)
T=0.414773/73 (SGDP_PRJ)
T=0.416667/10 (Siberian)
HGVS:: NC_000002.12:g.181549795T>G, NC_000002.11:g.182414522T>G, NG_021178.2:g.112313A>C

Select item 1299745318.

rs12997453 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:181548532 (GRCh38)
2:182413259 (GRCh37)
Canonical SPDI:: NC_000002.12:181548531:A:G,NC_000002.12:181548531:A:T
Gene:: CERKL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.408861/17007 (ALFA)
A=0.254274/119 (SGDP_PRJ)
A=0.282609/13 (Siberian)
A=0.355096/669 (HapMap)
A=0.35634/1785 (1000Genomes)
A=0.356481/77 (Qatari)
A=0.376059/42949 (ExAC)
A=0.383987/235 (Vietnamese)
A=0.389593/95645 (GnomAD_exomes)
A=0.390284/715 (Korea1K)
A=0.390343/30713 (PAGE_STUDY)
A=0.395527/6629 (TOMMO)
A=0.4/1172 (KOREAN)
A=0.403551/106816 (TOPMED)
A=0.406367/217 (MGP)
A=0.406875/5291 (GoESP)
A=0.414893/58066 (GnomAD)
G=0.425/17 (GENOME_DK)
A=0.435651/1679 (ALSPAC)
A=0.435872/435 (GoNL)
A=0.437972/1624 (TWINSUK)
A=0.458705/2055 (Estonian)
G=0.463333/139 (FINRISK)
G=0.485/291 (NorthernSweden)
HGVS:: NC_000002.12:g.181548532A>G, NC_000002.12:g.181548532A>T, NC_000002.11:g.182413259A>G, NC_000002.11:g.182413259A>T, NG_021178.2:g.113576T>C, NG_021178.2:g.113576T>A

PubMed LitVar

Select item 1300306419.

rs13003064 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 2:181548875 (GRCh38)
2:182413602 (GRCh37)
Canonical SPDI:: NC_000002.12:181548874:A:C,NC_000002.12:181548874:A:G,NC_000002.12:181548874:A:T
Gene:: CERKL (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.412815/11539 (ALFA)
G=0./0 (KOREAN)
A=0.254274/119 (SGDP_PRJ)
A=0.272727/12 (Siberian)
A=0.351852/76 (Qatari)
A=0.356652/1786 (1000Genomes)
A=0.38193/45811 (ExAC)
A=0.384992/236 (Vietnamese)
A=0.388646/712 (Korea1K)
A=0.388776/96816 (GnomAD_exomes)
A=0.395385/6627 (TOMMO)
A=0.404027/106942 (TOPMED)
A=0.406889/5292 (GoESP)
A=0.415395/58142 (GnomAD)
T=0.425/17 (GENOME_DK)
A=0.425094/227 (MGP)
A=0.43617/1681 (ALSPAC)
A=0.437876/437 (GoNL)
A=0.438781/1627 (TWINSUK)
A=0.460045/2061 (Estonian)
T=0.470199/142 (FINRISK)
T=0.483333/290 (NorthernSweden)
HGVS:: NC_000002.12:g.181548875A>C, NC_000002.12:g.181548875A>G, NC_000002.12:g.181548875A>T, NC_000002.11:g.182413602A>C, NC_000002.11:g.182413602A>G, NC_000002.11:g.182413602A>T, NG_021178.2:g.113233T>G, NG_021178.2:g.113233T>C, NG_021178.2:g.113233T>A

Select item 1686744120.

rs16867441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:181537140 (GRCh38)
2:182401867 (GRCh37)
Canonical SPDI:: NC_000002.12:181537139:G:A
Gene:: ITGA4 (Varview), CERKL (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.007438/267 (ALFA)
A=0./0 (Korea1K)
A=0./0 (TWINSUK)
A=0.000212/4 (TOMMO)
A=0.000259/1 (ALSPAC)
A=0.000748/8 (ExAC)
A=0.001712/5 (KOREAN)
A=0.003484/445 (GnomAD_exomes)
A=0.015928/80 (1000Genomes)
A=0.016785/2350 (GnomAD)
A=0.017685/4681 (TOPMED)
A=0.018519/4 (Qatari)
A=0.031726/25 (HapMap)
G=0.5/6 (SGDP_PRJ)
HGVS:: NC_000002.12:g.181537140G>A, NC_000002.11:g.182401867G>A, NG_021178.2:g.124968C>T, NM_201548.5:c.*1044C>T, NM_201548.4:c.*1044C>T, NM_001030311.3:c.*1044C>T, NM_001030311.2:c.*1044C>T, NM_001030313.3:c.*1044C>T, NM_001030313.2:c.*1044C>T, NM_001030312.3:c.*1044C>T, NM_001030312.2:c.*1044C>T, NM_001160277.2:c.*1044C>T, NM_001160277.1:c.*1044C>T, NR_027690.2:n.2678C>T, NR_027690.1:n.2680C>T, NR_027689.2:n.2546C>T, NR_027689.1:n.2548C>T, NG_050623.1:g.85249G>A, NM_000885.6:c.*1613G>A, NM_000885.5:c.*1613G>A, NM_000885.4:c.*1613G>A

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