"human"[ORGN] and CASK - SNP

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Select item 10230651.

rs1023065 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:41727965 (GRCh38)
X:41587218 (GRCh37)
Canonical SPDI:: NC_000023.11:41727964:T:C
Gene:: CASK (Varview), GPR82 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.222734/28534 (ALFA)
T=0.006757/1 (Vietnamese)
T=0.034176/100 (KOREAN)
T=0.042683/21 (SGDP_PRJ)
T=0.043873/563 (TOMMO)
T=0.090909/4 (Siberian)
T=0.130905/494 (1000Genomes)
T=0.154334/292 (HapMap)
T=0.165808/13638 (ExAC)
T=0.178719/47305 (TOPMED)
T=0.188362/32706 (GnomAD_exomes)
T=0.193772/2041 (GoESP)
T=0.226268/839 (TWINSUK)
T=0.227414/657 (ALSPAC)
T=0.259259/28 (Qatari)
T=0.269663/144 (MGP)
T=0.325/13 (GENOME_DK)
HGVS:: NC_000023.11:g.41727965T>C, NC_000023.10:g.41587218T>C, NG_016754.2:g.200070A>G, NG_016566.1:g.8811T>C, NM_080817.5:c.939T>C, NM_080817.4:c.939T>C, XM_047441991.1:c.939T>C, XM_047441992.1:c.939T>C

Select item 11412732.

rs1141273 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:41578407 (GRCh38)
X:41437660 (GRCh37)
Canonical SPDI:: NC_000023.11:41578406:T:C
Gene:: CASK (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: C=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.41578407T>C, NC_000023.10:g.41437660T>C, NG_016754.2:g.349628A>G, NM_003688.4:c.1436A>G, NM_003688.3:c.1436A>G, NM_001126054.3:c.1436A>G, NM_001126054.2:c.1436A>G, NM_001126055.3:c.1418A>G, NM_001126055.2:c.1418A>G, NM_001367721.1:c.1436A>G, NM_001410745.1:c.1418A>G, XM_005272686.5:c.1418A>G, XM_006724566.4:c.1418A>G, XM_006724566.3:c.1418A>G, XM_006724566.2:c.1418A>G, XM_006724566.1:c.1418A>G, XM_011543997.4:c.863A>G, XM_011543997.3:c.863A>G, XM_011543997.2:c.863A>G, XM_011543997.1:c.863A>G, XM_011543993.3:c.1436A>G, XM_011543993.2:c.1436A>G, XM_011543993.1:c.1436A>G, XM_011543994.3:c.1436A>G, XM_011543994.2:c.1436A>G, XM_011543994.1:c.1436A>G, XM_011543995.3:c.1436A>G, XM_011543995.2:c.1436A>G, XM_011543995.1:c.1436A>G, XM_011543996.3:c.1436A>G, XM_011543996.2:c.1436A>G, XM_011543996.1:c.1436A>G, XM_047442601.1:c.1418A>G, NP_003679.2:p.Asp479Gly, NP_001119526.1:p.Asp479Gly, NP_001119527.1:p.Asp473Gly, NP_001354650.1:p.Asp479Gly, XP_005272743.1:p.Asp473Gly, XP_006724629.1:p.Asp473Gly, XP_011542299.1:p.Asp288Gly, XP_011542295.1:p.Asp479Gly, XP_011542296.1:p.Asp479Gly, XP_011542297.1:p.Asp479Gly, XP_011542298.1:p.Asp479Gly, XP_047298557.1:p.Asp473Gly

Select item 22550673.

rs2255067 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:41739762 (GRCh38)
X:41599015 (GRCh37)
Canonical SPDI:: NC_000023.11:41739761:T:G
Gene:: CASK (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.204113/7126 (ALFA)
G=0.009925/29 (KOREAN)
G=0.022049/283 (TOMMO)
G=0.100397/379 (1000Genomes)
G=0.104167/5 (Vietnamese)
G=0.115039/205 (HapMap)
G=0.145461/38502 (TOPMED)
G=0.163798/17026 (GnomAD)
T=0.197674/17 (SGDP_PRJ)
T=0.2/4 (Siberian)
G=0.225998/838 (TWINSUK)
G=0.227414/657 (ALSPAC)
G=0.259259/28 (Qatari)
G=0.325/13 (GENOME_DK)
HGVS:: NC_000023.11:g.41739762T>G, NC_000023.10:g.41599015T>G, NG_016754.2:g.188273A>C

Select item 29982504.

rs2998250 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: X:41531460 (GRCh38)
X:41390713 (GRCh37)
Canonical SPDI:: NC_000023.11:41531459:T:A,NC_000023.11:41531459:T:C,NC_000023.11:41531459:T:G
Gene:: CASK (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.439659/98043 (ALFA)
T=0.092486/32 (SGDP_PRJ)
T=0.131489/385 (KOREAN)
T=0.157895/6 (Siberian)
T=0.234043/11 (Vietnamese)
G=0.263158/10 (PRJEB36033)
G=0.351852/38 (Qatari)
T=0.403538/1523 (1000Genomes)
G=0.417476/1548 (TWINSUK)
G=0.436137/1260 (ALSPAC)
T=0.452381/855 (HapMap)
G=0.475/19 (GENOME_DK)
G=0.484514/128246 (TOPMED)
HGVS:: NC_000023.11:g.41531460T>A, NC_000023.11:g.41531460T>C, NC_000023.11:g.41531460T>G, NC_000023.10:g.41390713T>A, NC_000023.10:g.41390713T>C, NC_000023.10:g.41390713T>G, NG_016754.2:g.396575A>T, NG_016754.2:g.396575A>G, NG_016754.2:g.396575A>C

PubMed

Select item 59181945.

rs5918194 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:41523748 (GRCh38)
X:41383001 (GRCh37)
Canonical SPDI:: NC_000023.11:41523747:C:T
Gene:: CASK (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.119967/4189 (ALFA)
T=0.003745/2 (MGP)
T=0.016769/49 (KOREAN)
T=0.034154/439 (TOMMO)
T=0.041667/2 (Vietnamese)
T=0.068887/260 (1000Genomes)
T=0.078224/148 (HapMap)
T=0.091322/24172 (TOPMED)
T=0.1/4 (GENOME_DK)
T=0.101852/11 (Qatari)
T=0.104237/10816 (GnomAD)
T=0.11192/415 (TWINSUK)
T=0.117688/340 (ALSPAC)
C=0.15/9 (SGDP_PRJ)
C=0.1875/3 (Siberian)
HGVS:: NC_000023.11:g.41523748C>T, NC_000023.10:g.41383001C>T, NG_016754.2:g.404287G>A

Select item 59182016.

rs5918201 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:41553476 (GRCh38)
X:41412729 (GRCh37)
Canonical SPDI:: NC_000023.11:41553475:T:C
Gene:: CASK (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.167324/42167 (ALFA)
C=0.011644/34 (KOREAN)
C=0.022184/285 (TOMMO)
C=0.041667/2 (Vietnamese)
C=0.104266/394 (1000Genomes)
C=0.11368/236 (HGDP_Stanford)
C=0.121822/230 (HapMap)
C=0.125/5 (GENOME_DK)
C=0.138889/15 (Qatari)
C=0.141717/37511 (TOPMED)
C=0.155531/15967 (GnomAD)
C=0.170982/634 (TWINSUK)
C=0.173416/501 (ALSPAC)
T=0.1875/3 (Siberian)
T=0.223684/17 (SGDP_PRJ)
C=0.288889/26 (PRJEB36033)
HGVS:: NC_000023.11:g.41553476T>C, NC_000023.10:g.41412729T>C, NG_016754.2:g.374559A>G

Select item 59182067.

rs5918206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:41587245 (GRCh38)
X:41446498 (GRCh37)
Canonical SPDI:: NC_000023.11:41587244:G:C
Gene:: CASK (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.163391/3026 (ALFA)
C=0.010281/30 (KOREAN)
C=0.022139/284 (TOMMO)
C=0.0625/3 (Vietnamese)
C=0.099688/376 (1000Genomes)
C=0.1/4 (GENOME_DK)
C=0.10061/33 (HapMap)
C=0.132823/35157 (TOPMED)
C=0.138889/15 (Qatari)
C=0.147497/15226 (GnomAD)
C=0.151834/563 (TWINSUK)
C=0.159225/460 (ALSPAC)
G=0.1875/3 (Siberian)
G=0.223684/17 (SGDP_PRJ)
HGVS:: NC_000023.11:g.41587245G>C, NC_000023.10:g.41446498G>C, NG_016754.2:g.340790C>G

Select item 59632608.

rs5963260 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:41587009 (GRCh38)
X:41446262 (GRCh37)
Canonical SPDI:: NC_000023.11:41587008:C:T
Gene:: CASK (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.013542/316 (ALFA)
T=0.006314/1035 (GnomAD_exomes)
T=0.008943/583 (ExAC)
T=0.024464/258 (GoESP)
T=0.026842/2790 (GnomAD)
T=0.028505/7545 (TOPMED)
T=0.029553/112 (1000Genomes)
C=0.25/3 (SGDP_PRJ)
HGVS:: NC_000023.11:g.41587009C>T, NC_000023.10:g.41446262C>T, NG_016754.2:g.341026G>A

Select item 59632769.

rs5963276 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:41786902 (GRCh38)
X:41646155 (GRCh37)
Canonical SPDI:: NC_000023.11:41786901:G:A,NC_000023.11:41786901:G:T
Gene:: CASK (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.189584/13705 (ALFA)
T=0.009925/29 (KOREAN)
T=0.022004/283 (TOMMO)
T=0.104167/5 (Vietnamese)
T=0.127575/482 (1000Genomes)
T=0.146561/277 (HapMap)
T=0.160269/334 (HGDP_Stanford)
T=0.176025/46592 (TOPMED)
G=0.211538/22 (SGDP_PRJ)
G=0.222222/4 (Siberian)
T=0.222222/824 (TWINSUK)
T=0.224991/650 (ALSPAC)
T=0.25/27 (Qatari)
T=0.325/13 (GENOME_DK)
T=0.481481/26 (PRJEB36033)
HGVS:: NC_000023.11:g.41786902G>A, NC_000023.11:g.41786902G>T, NC_000023.10:g.41646155G>A, NC_000023.10:g.41646155G>T, NG_016754.2:g.141133C>T, NG_016754.2:g.141133C>A

Select item 596400710.

rs5964007 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:41534697 (GRCh38)
X:41393950 (GRCh37)
Canonical SPDI:: NC_000023.11:41534696:A:G
Gene:: CASK (Varview)
Functional Consequence:: intron_variant
Clinical significance:: uncertain-significance,benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000491/13 (ALFA)
G=0.000229/42 (GnomAD_exomes)
G=0.000275/24 (ExAC)
G=0.000568/6 (GoESP)
G=0.00081/84 (GnomAD)
G=0.00085/225 (TOPMED)
G=0.001976/1 (HapMap)
G=0.002706/10 (1000Genomes)
HGVS:: NC_000023.11:g.41534697A>G, NC_000023.10:g.41393950A>G, NG_016754.2:g.393338T>C

Select item 596401911.

rs5964019 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:41587017 (GRCh38)
X:41446270 (GRCh37)
Canonical SPDI:: NC_000023.11:41587016:C:T
Gene:: CASK (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.013673/315 (ALFA)
T=0./0 (HapMap)
T=0.005989/936 (GnomAD_exomes)
T=0.008547/535 (ExAC)
T=0.024566/259 (GoESP)
T=0.026825/2791 (GnomAD)
T=0.028501/7544 (TOPMED)
T=0.029553/112 (1000Genomes)
C=0.25/3 (SGDP_PRJ)
HGVS:: NC_000023.11:g.41587017C>T, NC_000023.10:g.41446270C>T, NG_016754.2:g.341018G>A

Select item 1130759412.

rs11307594 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A [Show Flanks]
Chromosome:: X:41555937 (GRCh38)
X:41415190 (GRCh37)
Canonical SPDI:: NC_000023.11:41555926:AAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:41555926:AAAAAAAAAAAA:AAAAAAAAAAA
Gene:: CASK (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0.00428/19 (ALFA)
A=0./0 (ALSPAC)
A=0./0 (GENOME_DK)
A=0./0 (TWINSUK)
-=0.00065/63 (GnomAD)
A=0.01483/56 (1000Genomes)
HGVS:: NC_000023.11:g.41555937_41555938del, NC_000023.11:g.41555938del, NC_000023.10:g.41415190_41415191del, NC_000023.10:g.41415191del, NG_016754.2:g.372107_372108del, NG_016754.2:g.372108del

Select item 1200894313.

rs12008943 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: X:41589242 (GRCh38)
X:41448495 (GRCh37)
Canonical SPDI:: NC_000023.11:41589241:G:C,NC_000023.11:41589241:G:T
Gene:: CASK (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.412436/11959 (ALFA)
G=0.117089/37 (SGDP_PRJ)
G=0.166667/6 (Siberian)
T=0.205943/603 (KOREAN)
T=0.220672/2834 (TOMMO)
T=0.291667/14 (Vietnamese)
G=0.296296/32 (Qatari)
G=0.410194/1521 (TWINSUK)
G=0.425061/1228 (ALSPAC)
G=0.427436/113138 (TOPMED)
G=0.45/18 (GENOME_DK)
T=0.484912/1831 (1000Genomes)
G=0.5/2 (PRJEB36033)
HGVS:: NC_000023.11:g.41589242G>C, NC_000023.11:g.41589242G>T, NC_000023.10:g.41448495G>C, NC_000023.10:g.41448495G>T, NG_016754.2:g.338793C>G, NG_016754.2:g.338793C>A

Select item 1284219514.

rs12842195 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:41542691 (GRCh38)
X:41401944 (GRCh37)
Canonical SPDI:: NC_000023.11:41542690:C:A,NC_000023.11:41542690:C:T
Gene:: CASK (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: likely-pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00197/1 (HapMap)
HGVS:: NC_000023.11:g.41542691C>A, NC_000023.11:g.41542691C>T, NC_000023.10:g.41401944C>A, NC_000023.10:g.41401944C>T, NG_016754.2:g.385344G>T, NG_016754.2:g.385344G>A, NM_003688.4:c.2155G>T, NM_003688.4:c.2155G>A, NM_003688.3:c.2155G>T, NM_003688.3:c.2155G>A, NM_001126054.3:c.2086G>T, NM_001126054.3:c.2086G>A, NM_001126054.2:c.2086G>T, NM_001126054.2:c.2086G>A, NM_001126055.3:c.2068G>T, NM_001126055.3:c.2068G>A, NM_001126055.2:c.2068G>T, NM_001126055.2:c.2068G>A, NM_001367721.1:c.2155G>T, NM_001367721.1:c.2155G>A, NM_001410745.1:c.2137G>T, NM_001410745.1:c.2137G>A, XM_005272686.5:c.2137G>T, XM_005272686.5:c.2137G>A, XM_006724566.4:c.2032G>T, XM_006724566.4:c.2032G>A, XM_006724566.3:c.2032G>T, XM_006724566.3:c.2032G>A, XM_006724566.2:c.2032G>T, XM_006724566.2:c.2032G>A, XM_006724566.1:c.2032G>T, XM_006724566.1:c.2032G>A, XM_011543997.4:c.1582G>T, XM_011543997.4:c.1582G>A, XM_011543997.3:c.1582G>T, XM_011543997.3:c.1582G>A, XM_011543997.2:c.1582G>T, XM_011543997.2:c.1582G>A, XM_011543997.1:c.1582G>T, XM_011543997.1:c.1582G>A, XM_011543993.3:c.2155G>T, XM_011543993.3:c.2155G>A, XM_011543993.2:c.2155G>T, XM_011543993.2:c.2155G>A, XM_011543993.1:c.2155G>T, XM_011543993.1:c.2155G>A, XM_011543994.3:c.2119G>T, XM_011543994.3:c.2119G>A, XM_011543994.2:c.2119G>T, XM_011543994.2:c.2119G>A, XM_011543994.1:c.2119G>T, XM_011543994.1:c.2119G>A, XM_011543995.3:c.2086G>T, XM_011543995.3:c.2086G>A, XM_011543995.2:c.2086G>T, XM_011543995.2:c.2086G>A, XM_011543995.1:c.2086G>T, XM_011543995.1:c.2086G>A, XM_011543996.3:c.2050G>T, XM_011543996.3:c.2050G>A, XM_011543996.2:c.2050G>T, XM_011543996.2:c.2050G>A, XM_011543996.1:c.2050G>T, XM_011543996.1:c.2050G>A, XM_047442601.1:c.2101G>T, XM_047442601.1:c.2101G>A, NP_003679.2:p.Asp719Tyr, NP_003679.2:p.Asp719Asn, NP_001119526.1:p.Asp696Tyr, NP_001119526.1:p.Asp696Asn, NP_001119527.1:p.Val690Leu, NP_001119527.1:p.Val690Met, NP_001354650.1:p.Val719Leu, NP_001354650.1:p.Val719Met, XP_005272743.1:p.Val713Leu, XP_005272743.1:p.Val713Met, XP_006724629.1:p.Val678Leu, XP_006724629.1:p.Val678Met, XP_011542299.1:p.Val528Leu, XP_011542299.1:p.Val528Met, XP_011542295.1:p.Val719Leu, XP_011542295.1:p.Val719Met, XP_011542296.1:p.Val707Leu, XP_011542296.1:p.Val707Met, XP_011542297.1:p.Val696Leu, XP_011542297.1:p.Val696Met, XP_011542298.1:p.Val684Leu, XP_011542298.1:p.Val684Met, XP_047298557.1:p.Val701Leu, XP_047298557.1:p.Val701Met

Select item 1714450815.

rs17144508 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:41555559 (GRCh38)
X:41414812 (GRCh37)
Canonical SPDI:: NC_000023.11:41555558:T:A
Gene:: CASK (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.01415/327 (ALFA)
A=0.007447/1351 (GnomAD_exomes)
A=0.009926/838 (ExAC)
A=0.028043/2912 (GnomAD)
A=0.030016/7945 (TOPMED)
A=0.030177/114 (1000Genomes)
A=0.032661/345 (GoESP)
A=0.053309/58 (HapMap)
T=0.214286/3 (SGDP_PRJ)
HGVS:: NC_000023.11:g.41555559T>A, NC_000023.10:g.41414812T>A, NG_016754.2:g.372476A>T

Select item 1731580016.

rs17315800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:41586952 (GRCh38)
X:41446205 (GRCh37)
Canonical SPDI:: NC_000023.11:41586951:G:A
Gene:: CASK (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by cluster
MAF:: A=0./0 (HapMap)
HGVS:: NC_000023.11:g.41586952G>A, NC_000023.10:g.41446205G>A, NG_016754.2:g.341083C>T, NM_003688.4:c.1269C>T, NM_003688.3:c.1269C>T, NM_001126054.3:c.1269C>T, NM_001126054.2:c.1269C>T, NM_001126055.3:c.1251C>T, NM_001126055.2:c.1251C>T, NM_001367721.1:c.1269C>T, NM_001410745.1:c.1251C>T, XM_005272686.5:c.1251C>T, XM_006724566.4:c.1251C>T, XM_006724566.3:c.1251C>T, XM_006724566.2:c.1251C>T, XM_006724566.1:c.1251C>T, XM_011543997.4:c.696C>T, XM_011543997.3:c.696C>T, XM_011543997.2:c.696C>T, XM_011543997.1:c.696C>T, XM_011543993.3:c.1269C>T, XM_011543993.2:c.1269C>T, XM_011543993.1:c.1269C>T, XM_011543994.3:c.1269C>T, XM_011543994.2:c.1269C>T, XM_011543994.1:c.1269C>T, XM_011543995.3:c.1269C>T, XM_011543995.2:c.1269C>T, XM_011543995.1:c.1269C>T, XM_011543996.3:c.1269C>T, XM_011543996.2:c.1269C>T, XM_011543996.1:c.1269C>T, XM_047442601.1:c.1251C>T

Select item 4130575117.

rs41305751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:41745708 (GRCh38)
X:41604961 (GRCh37)
Canonical SPDI:: NC_000023.11:41745707:G:T
Gene:: CASK (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.100053/2997 (ALFA)
T=0.016854/9 (MGP)
T=0.05/2 (GENOME_DK)
T=0.062435/236 (1000Genomes)
T=0.070169/18573 (TOPMED)
T=0.076406/7954 (GnomAD)
T=0.104167/5 (Vietnamese)
T=0.110073/318 (ALSPAC)
T=0.119795/351 (KOREAN)
T=0.124595/462 (TWINSUK)
T=0.138889/15 (Qatari)
T=0.160914/2067 (TOMMO)
G=0.196429/11 (SGDP_PRJ)
G=0.5/2 (Siberian)
HGVS:: NC_000023.11:g.41745708G>T, NC_000023.10:g.41604961G>T, NG_016754.2:g.182327C>A

Select item 4130735118.

rs41307351 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:41553704 (GRCh38)
X:41412957 (GRCh37)
Canonical SPDI:: NC_000023.11:41553703:C:T
Gene:: CASK (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.002431/56 (ALFA)
C=0./0 (SGDP_PRJ)
T=0.000684/2 (KOREAN)
T=0.001639/259 (GnomAD_exomes)
T=0.004388/154 (ExAC)
T=0.004995/19 (1000Genomes)
T=0.006019/624 (GnomAD)
T=0.00643/1702 (TOPMED)
T=0.007859/83 (GoESP)
HGVS:: NC_000023.11:g.41553704C>T, NC_000023.10:g.41412957C>T, NG_016754.2:g.374331G>A

Select item 4131066119.

rs41310661 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: X:41535013 (GRCh38)
X:41394266 (GRCh37)
Canonical SPDI:: NC_000023.11:41535012:A:C,NC_000023.11:41535012:A:G,NC_000023.11:41535012:A:T
Gene:: CASK (Varview)
Functional Consequence:: intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0./0 (SGDP_PRJ)
T=0./0 (TWINSUK)
T=0.00035/1 (ALSPAC)
T=0.00333/13 (1000Genomes)
HGVS:: NC_000023.11:g.41535013A>C, NC_000023.11:g.41535013A>G, NC_000023.11:g.41535013A>T, NC_000023.10:g.41394266A>C, NC_000023.10:g.41394266A>G, NC_000023.10:g.41394266A>T, NG_016754.2:g.393022T>G, NG_016754.2:g.393022T>C, NG_016754.2:g.393022T>A

Select item 4143124520.

rs41431245 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:41739450 (GRCh38)
X:41598703 (GRCh37)
Canonical SPDI:: NC_000023.11:41739449:A:G
Gene:: CASK (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.004034/123 (ALFA)
G=0.000379/4 (GoESP)
G=0.005618/3 (MGP)
G=0.005914/616 (GnomAD)
G=0.010476/2773 (TOPMED)
G=0.010809/943 (ExAC)
G=0.012955/2365 (GnomAD_exomes)
G=0.018939/71 (1000Genomes)
G=0.022409/288 (TOMMO)
G=0.033196/97 (KOREAN)
G=0.06/6 (Vietnamese)
A=0.166667/1 (Siberian)
A=0.454545/10 (SGDP_PRJ)
HGVS:: NC_000023.11:g.41739450A>G, NC_000023.10:g.41598703A>G, NG_016754.2:g.188585T>C, NM_003688.4:c.363T>C, NM_003688.3:c.363T>C, NM_001126054.3:c.363T>C, NM_001126054.2:c.363T>C, NM_001126055.3:c.363T>C, NM_001126055.2:c.363T>C, NM_001367721.1:c.363T>C, NM_001410745.1:c.363T>C, XM_005272686.5:c.363T>C, XM_006724566.4:c.363T>C, XM_006724566.3:c.363T>C, XM_006724566.2:c.363T>C, XM_006724566.1:c.363T>C, XM_011543993.3:c.381T>C, XM_011543993.2:c.381T>C, XM_011543993.1:c.381T>C, XM_011543994.3:c.381T>C, XM_011543994.2:c.381T>C, XM_011543994.1:c.381T>C, XM_011543995.3:c.381T>C, XM_011543995.2:c.381T>C, XM_011543995.1:c.381T>C, XM_011543996.3:c.381T>C, XM_011543996.2:c.381T>C, XM_011543996.1:c.381T>C, XM_047442601.1:c.363T>C

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