SNP Links for Gene (Select 101929083) - SNP

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Select item 14914941591.

rs1491494159 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:91648464 (GRCh38)
6:92358182 (GRCh37)
Canonical SPDI:: NC_000006.12:91648463:CT:
Gene:: CASC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000006.12:g.91648464_91648465del, NC_000006.11:g.92358182_92358183del

Select item 14913484042.

rs1491348404 has merged into rs56235539 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:91648475 (GRCh38)
6:92358193 (GRCh37)
Canonical SPDI:: NC_000006.12:91648464:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:91648464:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:91648464:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:91648464:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:91648464:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:91648464:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:91648464:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:91648464:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:91648464:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:91648464:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:91648464:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:91648464:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:91648464:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:91648464:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:91648464:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:91648464:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:91648464:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:91648464:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CASC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.1222/612 (1000Genomes)
HGVS:: NC_000006.12:g.91648475_91648484del, NC_000006.12:g.91648476_91648484del, NC_000006.12:g.91648477_91648484del, NC_000006.12:g.91648478_91648484del, NC_000006.12:g.91648479_91648484del, NC_000006.12:g.91648480_91648484del, NC_000006.12:g.91648481_91648484del, NC_000006.12:g.91648482_91648484del, NC_000006.12:g.91648483_91648484del, NC_000006.12:g.91648484del, NC_000006.12:g.91648484dup, NC_000006.12:g.91648483_91648484dup, NC_000006.12:g.91648480_91648484dup, NC_000006.12:g.91648479_91648484dup, NC_000006.12:g.91648476_91648484dup, NC_000006.12:g.91648467_91648484dup, NC_000006.12:g.91648465_91648484dup, NC_000006.12:g.91648484_91648485insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.92358193_92358202del, NC_000006.11:g.92358194_92358202del, NC_000006.11:g.92358195_92358202del, NC_000006.11:g.92358196_92358202del, NC_000006.11:g.92358197_92358202del, NC_000006.11:g.92358198_92358202del, NC_000006.11:g.92358199_92358202del, NC_000006.11:g.92358200_92358202del, NC_000006.11:g.92358201_92358202del, NC_000006.11:g.92358202del, NC_000006.11:g.92358202dup, NC_000006.11:g.92358201_92358202dup, NC_000006.11:g.92358198_92358202dup, NC_000006.11:g.92358197_92358202dup, NC_000006.11:g.92358194_92358202dup, NC_000006.11:g.92358185_92358202dup, NC_000006.11:g.92358183_92358202dup, NC_000006.11:g.92358202_92358203insTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913396933.

rs1491339693 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 6:91637243 (GRCh38)
6:92346961 (GRCh37)
Canonical SPDI:: NC_000006.12:91637242:GT:
Gene:: CASC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000427/6 (ALFA)
-=0.000986/261 (TOPMED)
-=0.001065/147 (GnomAD)
HGVS:: NC_000006.12:g.91637243_91637244del, NC_000006.11:g.92346961_92346962del

Select item 14912291324.

rs1491229132 has merged into rs71685512 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 6:91691303 (GRCh38)
6:92401021 (GRCh37)
Canonical SPDI:: NC_000006.12:91691292:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:91691292:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:91691292:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:91691292:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:91691292:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:91691292:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: CASC6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.1286/477 (TWINSUK)
-=0.1471/567 (ALSPAC)
-=0.243/1217 (1000Genomes)
HGVS:: NC_000006.12:g.91691303_91691306del, NC_000006.12:g.91691304_91691306del, NC_000006.12:g.91691305_91691306del, NC_000006.12:g.91691306del, NC_000006.12:g.91691306dup, NC_000006.12:g.91691305_91691306dup, NC_000006.11:g.92401021_92401024del, NC_000006.11:g.92401022_92401024del, NC_000006.11:g.92401023_92401024del, NC_000006.11:g.92401024del, NC_000006.11:g.92401024dup, NC_000006.11:g.92401023_92401024dup

Select item 14912287575.

rs1491228757 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTC [Show Flanks]
Chromosome:: 6:91659058 (GRCh38)
6:92368777 (GRCh37)
Canonical SPDI:: NC_000006.12:91659058:CTC:CTCCCTC
Gene:: CASC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCCCTC=0./0 (ALFA)
CTCC=0.00092/6 (TOMMO)
HGVS:: NC_000006.12:g.91659061_91659062insCCTC, NC_000006.11:g.92368779_92368780insCCTC

Select item 14910764846.

rs1491076484 has merged into rs67425453 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 6:91666762 (GRCh38)
6:92376480 (GRCh37)
Canonical SPDI:: NC_000006.12:91666752:TTTTTTTTTTT:TTTTTTTTT,NC_000006.12:91666752:TTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:91666752:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:91666752:TTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: CASC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
T=0.11167/67 (NorthernSweden)
T=0.12124/121 (GoNL)
T=0.13285/512 (ALSPAC)
T=0.13889/515 (TWINSUK)
T=0.16294/816 (1000Genomes)
T=0.175/7 (GENOME_DK)
HGVS:: NC_000006.12:g.91666762_91666763del, NC_000006.12:g.91666763del, NC_000006.12:g.91666763dup, NC_000006.12:g.91666762_91666763dup, NC_000006.11:g.92376480_92376481del, NC_000006.11:g.92376481del, NC_000006.11:g.92376481dup, NC_000006.11:g.92376480_92376481dup

Select item 14910550027.

rs1491055002 has merged into rs71726092 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 6:91671886 (GRCh38)
6:92381604 (GRCh37)
Canonical SPDI:: NC_000006.12:91671874:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:91671874:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:91671874:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:91671874:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:91671874:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: CASC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.2/8 (GENOME_DK)
-=0.20707/1037 (1000Genomes)
HGVS:: NC_000006.12:g.91671886_91671887del, NC_000006.12:g.91671887del, NC_000006.12:g.91671887dup, NC_000006.12:g.91671886_91671887dup, NC_000006.12:g.91671885_91671887dup, NC_000006.11:g.92381604_92381605del, NC_000006.11:g.92381605del, NC_000006.11:g.92381605dup, NC_000006.11:g.92381604_92381605dup, NC_000006.11:g.92381603_92381605dup

Select item 14909394478.

rs1490939447 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:91689482 (GRCh38)
6:92399200 (GRCh37)
Canonical SPDI:: NC_000006.12:91689481:T:C
Gene:: CASC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
C=0.00463/1 (Vietnamese)
HGVS:: NC_000006.12:g.91689482T>C, NC_000006.11:g.92399200T>C

Select item 14909092579.

rs1490909257 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:91682577 (GRCh38)
6:92392295 (GRCh37)
Canonical SPDI:: NC_000006.12:91682576:C:G
Gene:: CASC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.91682577C>G, NC_000006.11:g.92392295C>G

Select item 149089358010.

rs1490893580 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:91689100 (GRCh38)
6:92398818 (GRCh37)
Canonical SPDI:: NC_000006.12:91689099:G:T
Gene:: CASC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000068/18 (TOPMED)
HGVS:: NC_000006.12:g.91689100G>T, NC_000006.11:g.92398818G>T

Select item 149088793011.

rs1490887930 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:91631835 (GRCh38)
6:92341553 (GRCh37)
Canonical SPDI:: NC_000006.12:91631834:C:T
Gene:: CASC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.91631835C>T, NC_000006.11:g.92341553C>T

Select item 149081204412.

rs1490812044 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:91674601 (GRCh38)
6:92384319 (GRCh37)
Canonical SPDI:: NC_000006.12:91674600:T:C
Gene:: CASC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000006.12:g.91674601T>C, NC_000006.11:g.92384319T>C

Select item 149076890013.

rs1490768900 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:91641698 (GRCh38)
6:92351416 (GRCh37)
Canonical SPDI:: NC_000006.12:91641697:A:G
Gene:: CASC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.91641698A>G, NC_000006.11:g.92351416A>G

Select item 149072011714.

rs1490720117 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:91652485 (GRCh38)
6:92362203 (GRCh37)
Canonical SPDI:: NC_000006.12:91652484:T:C
Gene:: CASC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.91652485T>C, NC_000006.11:g.92362203T>C

Select item 149068714115.

rs1490687141 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:91666969 (GRCh38)
6:92376687 (GRCh37)
Canonical SPDI:: NC_000006.12:91666968:G:C
Gene:: CASC6 (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)
HGVS:: NC_000006.12:g.91666969G>C, NC_000006.11:g.92376687G>C

Select item 149067293416.

rs1490672934 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:91642987 (GRCh38)
6:92352706 (GRCh37)
Canonical SPDI:: NC_000006.12:91642987:AAAAAA:AAAAAAA
Gene:: CASC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.91642993dup, NC_000006.11:g.92352711dup

Select item 149062543617.

rs1490625436 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:91646435 (GRCh38)
6:92356153 (GRCh37)
Canonical SPDI:: NC_000006.12:91646434:T:C
Gene:: CASC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000019/2 (GnomAD)
HGVS:: NC_000006.12:g.91646435T>C, NC_000006.11:g.92356153T>C

Select item 149060562318.

rs1490605623 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:91640783 (GRCh38)
6:92350501 (GRCh37)
Canonical SPDI:: NC_000006.12:91640782:G:A
Gene:: CASC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000014/2 (GnomAD)
A=0.003333/2 (NorthernSweden)
HGVS:: NC_000006.12:g.91640783G>A, NC_000006.11:g.92350501G>A

Select item 149053763519.

rs1490537635 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:91687601 (GRCh38)
6:92397319 (GRCh37)
Canonical SPDI:: NC_000006.12:91687600:A:G
Gene:: CASC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.91687601A>G, NC_000006.11:g.92397319A>G

Select item 149049020720.

rs1490490207 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:91680256 (GRCh38)
6:92389974 (GRCh37)
Canonical SPDI:: NC_000006.12:91680255:T:A
Gene:: CASC6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.91680256T>A, NC_000006.11:g.92389974T>A

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