SNP Links for Gene (Select 101929110) - SNP

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Select item 14914046831.

rs1491404683 has merged into rs57952462 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:105718127 (GRCh38)
12:106111905 (GRCh37)
Canonical SPDI:: NC_000012.12:105718117:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:105718117:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:105718117:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:105718117:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:105718117:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:105718117:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:105718117:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:105718117:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:105718117:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:105718117:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:105718117:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: CASC18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AAA=0.276/1382 (1000Genomes)
HGVS:: NC_000012.12:g.105718127_105718135del, NC_000012.12:g.105718130_105718135del, NC_000012.12:g.105718131_105718135del, NC_000012.12:g.105718132_105718135del, NC_000012.12:g.105718133_105718135del, NC_000012.12:g.105718134_105718135del, NC_000012.12:g.105718135del, NC_000012.12:g.105718135dup, NC_000012.12:g.105718134_105718135dup, NC_000012.12:g.105718133_105718135dup, NC_000012.12:g.105718132_105718135dup, NC_000012.11:g.106111905_106111913del, NC_000012.11:g.106111908_106111913del, NC_000012.11:g.106111909_106111913del, NC_000012.11:g.106111910_106111913del, NC_000012.11:g.106111911_106111913del, NC_000012.11:g.106111912_106111913del, NC_000012.11:g.106111913del, NC_000012.11:g.106111913dup, NC_000012.11:g.106111912_106111913dup, NC_000012.11:g.106111911_106111913dup, NC_000012.11:g.106111910_106111913dup

Select item 14913551622.

rs1491355162 has merged into rs1224450189 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 12:105744431 (GRCh38)
12:106138209 (GRCh37)
Canonical SPDI:: NC_000012.12:105744423:ATATATATA:ATATATA,NC_000012.12:105744423:ATATATATA:ATATATATATA
Gene:: CASC18 (Varview), LOC107984435 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATA=0./0 (ALFA)
-=0.00004/1 (TOMMO)
AT=0.00016/1 (1000Genomes)
HGVS:: NC_000012.12:g.105744425TA[3], NC_000012.12:g.105744425TA[5], NC_000012.11:g.106138203TA[3], NC_000012.11:g.106138203TA[5]

Select item 14910458633.

rs1491045863 has merged into rs377574126 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT [Show Flanks]
Chromosome:: 12:105706047 (GRCh38)
12:106099825 (GRCh37)
Canonical SPDI:: NC_000012.12:105706039:TGTGTGTGTGT:TGTGTGT,NC_000012.12:105706039:TGTGTGTGTGT:TGTGTGTGT,NC_000012.12:105706039:TGTGTGTGTGT:TGTGTGTGTGTGT,NC_000012.12:105706039:TGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000012.12:105706039:TGTGTGTGTGT:TGTGTGTGTGTGTGTGT
Gene:: CASC18 (Varview), LOC105369959 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGT=0./0 (ALFA)
-=0.00004/1 (TOMMO)
TGTG=0.0024/12 (1000Genomes)
HGVS:: NC_000012.12:g.105706041GT[3], NC_000012.12:g.105706041GT[4], NC_000012.12:g.105706041GT[6], NC_000012.12:g.105706041GT[7], NC_000012.12:g.105706041GT[8], NC_000012.11:g.106099819GT[3], NC_000012.11:g.106099819GT[4], NC_000012.11:g.106099819GT[6], NC_000012.11:g.106099819GT[7], NC_000012.11:g.106099819GT[8]

Select item 14910363104.

rs1491036310 has merged into rs5800675 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 12:105708062 (GRCh38)
12:106101840 (GRCh37)
Canonical SPDI:: NC_000012.12:105708055:AAAAAAAAAA:AAAAAA,NC_000012.12:105708055:AAAAAAAAAA:AAAAAAAA,NC_000012.12:105708055:AAAAAAAAAA:AAAAAAAAA,NC_000012.12:105708055:AAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:105708055:AAAAAAAAAA:AAAAAAAAAAAA
Gene:: CASC18 (Varview), LOC105369959 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.4541/2274 (1000Genomes)
HGVS:: NC_000012.12:g.105708062_105708065del, NC_000012.12:g.105708064_105708065del, NC_000012.12:g.105708065del, NC_000012.12:g.105708065dup, NC_000012.12:g.105708064_105708065dup, NC_000012.11:g.106101840_106101843del, NC_000012.11:g.106101842_106101843del, NC_000012.11:g.106101843del, NC_000012.11:g.106101843dup, NC_000012.11:g.106101842_106101843dup

Select item 14908389785.

rs1490838978 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:105706345 (GRCh38)
12:106100123 (GRCh37)
Canonical SPDI:: NC_000012.12:105706344:G:A
Gene:: CASC18 (Varview), LOC105369959 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000012.12:g.105706345G>A, NC_000012.11:g.106100123G>A

Select item 14907839216.

rs1490783921 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:105722401 (GRCh38)
12:106116179 (GRCh37)
Canonical SPDI:: NC_000012.12:105722400:G:A
Gene:: CASC18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.105722401G>A, NC_000012.11:g.106116179G>A

Select item 14907648127.

rs1490764812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:105723704 (GRCh38)
12:106117482 (GRCh37)
Canonical SPDI:: NC_000012.12:105723703:G:A
Gene:: CASC18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.105723704G>A, NC_000012.11:g.106117482G>A

Select item 14906856928.

rs1490685692 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGC>- [Show Flanks]
Chromosome:: 12:105739156 (GRCh38)
12:106132934 (GRCh37)
Canonical SPDI:: NC_000012.12:105739152:AGCAGC:AGC
Gene:: CASC18 (Varview), LOC107984435 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGCAGC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.105739153AGC[1], NC_000012.11:g.106132931AGC[1], XR_001749303.2:n.629GCT[1], XR_001749303.1:n.629GCT[1], XR_007063441.1:n.734GCT[1]

Select item 14906379099.

rs1490637909 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:105706759 (GRCh38)
12:106100537 (GRCh37)
Canonical SPDI:: NC_000012.12:105706758:T:C
Gene:: CASC18 (Varview), LOC105369959 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.105706759T>C, NC_000012.11:g.106100537T>C

Select item 149052170010.

rs1490521700 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:105739613 (GRCh38)
12:106133391 (GRCh37)
Canonical SPDI:: NC_000012.12:105739612:G:T
Gene:: CASC18 (Varview), LOC107984435 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.105739613G>T, NC_000012.11:g.106133391G>T

Select item 149048197011.

rs1490481970 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:105732301 (GRCh38)
12:106126079 (GRCh37)
Canonical SPDI:: NC_000012.12:105732300:A:G
Gene:: CASC18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.105732301A>G, NC_000012.11:g.106126079A>G

Select item 149038714812.

rs1490387148 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:105735474 (GRCh38)
12:106129252 (GRCh37)
Canonical SPDI:: NC_000012.12:105735473:A:C,NC_000012.12:105735473:A:G
Gene:: CASC18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.105735474A>C, NC_000012.12:g.105735474A>G, NC_000012.11:g.106129252A>C, NC_000012.11:g.106129252A>G

Select item 149037809213.

rs1490378092 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 12:105705781 (GRCh38)
12:106099559 (GRCh37)
Canonical SPDI:: NC_000012.12:105705780:G:C,NC_000012.12:105705780:G:T
Gene:: CASC18 (Varview), LOC105369959 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.00055/1 (Korea1K)
HGVS:: NC_000012.12:g.105705781G>C, NC_000012.12:g.105705781G>T, NC_000012.11:g.106099559G>C, NC_000012.11:g.106099559G>T

Select item 149036238214.

rs1490362382 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:105705868 (GRCh38)
12:106099646 (GRCh37)
Canonical SPDI:: NC_000012.12:105705867:A:T
Gene:: CASC18 (Varview), LOC105369959 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.105705868A>T, NC_000012.11:g.106099646A>T

Select item 149031822215.

rs1490318222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:105732811 (GRCh38)
12:106126589 (GRCh37)
Canonical SPDI:: NC_000012.12:105732810:G:C
Gene:: CASC18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.105732811G>C, NC_000012.11:g.106126589G>C

Select item 149005861716.

rs1490058617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:105733507 (GRCh38)
12:106127285 (GRCh37)
Canonical SPDI:: NC_000012.12:105733506:G:A
Gene:: CASC18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.105733507G>A, NC_000012.11:g.106127285G>A

Select item 148992568317.

rs1489925683 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:105714832 (GRCh38)
12:106108610 (GRCh37)
Canonical SPDI:: NC_000012.12:105714831:A:C
Gene:: CASC18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000546/1 (Korea1K)
C=0.002396/7 (KOREAN)
HGVS:: NC_000012.12:g.105714832A>C, NC_000012.11:g.106108610A>C

Select item 148989494418.

rs1489894944 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:105715974 (GRCh38)
12:106109752 (GRCh37)
Canonical SPDI:: NC_000012.12:105715973:T:G
Gene:: CASC18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.105715974T>G, NC_000012.11:g.106109752T>G

Select item 148987234019.

rs1489872340 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAC>- [Show Flanks]
Chromosome:: 12:105732202 (GRCh38)
12:106125980 (GRCh37)
Canonical SPDI:: NC_000012.12:105732199:ACTAC:AC
Gene:: CASC18 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.105732202_105732204del, NC_000012.11:g.106125980_106125982del

Select item 148982118320.

rs1489821183 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:105707138 (GRCh38)
12:106100916 (GRCh37)
Canonical SPDI:: NC_000012.12:105707137:A:G
Gene:: CASC18 (Varview), LOC105369959 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000045/12 (TOPMED)
HGVS:: NC_000012.12:g.105707138A>G, NC_000012.11:g.106100916A>G

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