SNP Links for Gene (Select 101928165) - SNP

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Select item 14915666051.

rs1491566605 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:71194512 (GRCh38)
17:69190653 (GRCh37)
Canonical SPDI:: NC_000017.11:71194509:AGAG:AG
Gene:: CASC17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0018/7 (ALSPAC)
-=0.0076/28 (TWINSUK)
HGVS:: NC_000017.11:g.71194510AG[1], NC_000017.10:g.69190651AG[1]

Select item 14915376592.

rs1491537659 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:71130879 (GRCh38)
17:69127020 (GRCh37)
Canonical SPDI:: NC_000017.11:71130878:CT:
Gene:: CASC17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.001023/16 (ALFA)
-=0.000283/5 (TOMMO)
-=0.001782/245 (GnomAD)
HGVS:: NC_000017.11:g.71130879_71130880del, NC_000017.10:g.69127020_69127021del

Select item 14915143533.

rs1491514353 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 17:71100339 (GRCh38)
17:69096480 (GRCh37)
Canonical SPDI:: NC_000017.11:71100337:AAA:A,NC_000017.11:71100337:AAA:AAAAA
Gene:: CASC17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAA=0./0 (ALFA)
-=0.000074/10 (GnomAD)
HGVS:: NC_000017.11:g.71100339_71100340del, NC_000017.11:g.71100339_71100340dup, NC_000017.10:g.69096480_69096481del, NC_000017.10:g.69096480_69096481dup

Select item 14914792844.

rs1491479284 has merged into rs1299924094 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT,CTCTCT [Show Flanks]
Chromosome:: 17:71154258 (GRCh38)
17:69150399 (GRCh37)
Canonical SPDI:: NC_000017.11:71154247:CTCTCTCTCTCTCT:CTCTCTCTCT,NC_000017.11:71154247:CTCTCTCTCTCTCT:CTCTCTCTCTCT,NC_000017.11:71154247:CTCTCTCTCTCTCT:CTCTCTCTCTCTCTCT
Gene:: CASC17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCTCTCTCT=0./0 (ALFA)
-=0.0006/10 (TOMMO)
-=0.0008/4 (1000Genomes)
HGVS:: NC_000017.11:g.71154248CT[5], NC_000017.11:g.71154248CT[6], NC_000017.11:g.71154248CT[8], NC_000017.10:g.69150389CT[5], NC_000017.10:g.69150389CT[6], NC_000017.10:g.69150389CT[8]

Select item 14914711045.

rs1491471104 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:71186440 (GRCh38)
17:69182582 (GRCh37)
Canonical SPDI:: NC_000017.11:71186440::G
Gene:: CASC17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.001119/5 (ALFA)
G=0.000129/18 (GnomAD)
HGVS:: NC_000017.11:g.71186440_71186441insG, NC_000017.10:g.69182581_69182582insG

Select item 14914564576.

rs1491456457 [Homo sapiens]

Variant type:: SNV:
Alleles:: AA>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14914249447.

rs1491424944 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 17:71153281 (GRCh38)
17:69149422 (GRCh37)
Canonical SPDI:: NC_000017.11:71153279:AGA:A
Gene:: CASC17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.71153281_71153282del, NC_000017.10:g.69149422_69149423del

Select item 14913872708.

rs1491387270 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 17:71186377 (GRCh38)
17:69182518 (GRCh37)
Canonical SPDI:: NC_000017.11:71186375:AAA:A
Gene:: CASC17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00025/4 (ALFA)
-=0.00061/48 (GnomAD)
HGVS:: NC_000017.11:g.71186377_71186378del, NC_000017.10:g.69182518_69182519del

Select item 14913469389.

rs1491346938 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:71118515 (GRCh38)
17:69114657 (GRCh37)
Canonical SPDI:: NC_000017.11:71118515::G
Gene:: CASC17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000026/7 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.71118515_71118516insG, NC_000017.10:g.69114656_69114657insG

Select item 149134326610.

rs1491343266 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACTC [Show Flanks]
Chromosome:: 17:71154247 (GRCh38)
17:69150389 (GRCh37)
Canonical SPDI:: NC_000017.11:71154247:C:CACTC
Gene:: CASC17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACTC=0.00008/1 (ALFA)
CACT=0.00003/2 (GnomAD)
HGVS:: NC_000017.11:g.71154248_71154249insACTC, NC_000017.10:g.69150389_69150390insACTC

Select item 149132290211.

rs1491322902 has merged into rs11357418 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 17:71118525 (GRCh38)
17:69114666 (GRCh37)
Canonical SPDI:: NC_000017.11:71118514:TTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:71118514:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:71118514:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:71118514:TTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: CASC17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.144006/555 (ALSPAC)
-=0.158306/587 (TWINSUK)
-=0.262114/69379 (TOPMED)
-=0.291134/1458 (1000Genomes)
HGVS:: NC_000017.11:g.71118525_71118526del, NC_000017.11:g.71118526del, NC_000017.11:g.71118526dup, NC_000017.11:g.71118525_71118526dup, NC_000017.10:g.69114666_69114667del, NC_000017.10:g.69114667del, NC_000017.10:g.69114667dup, NC_000017.10:g.69114666_69114667dup

Select item 149132193812.

rs1491321938 has merged into rs778856865 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGAGAGAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 17:71122850 (GRCh38)
17:69118991 (GRCh37)
Canonical SPDI:: NC_000017.11:71122828:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000017.11:71122828:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA,NC_000017.11:71122828:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA,NC_000017.11:71122828:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000017.11:71122828:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000017.11:71122828:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000017.11:71122828:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000017.11:71122828:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000017.11:71122828:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000017.11:71122828:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000017.11:71122828:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000017.11:71122828:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000017.11:71122828:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000017.11:71122828:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000017.11:71122828:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000017.11:71122828:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000017.11:71122828:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000017.11:71122828:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000017.11:71122828:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000017.11:71122828:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000017.11:71122828:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000017.11:71122828:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000017.11:71122828:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000017.11:71122828:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: CASC17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGAGAGAGAGA=0./0 (ALFA)
-=0.000045/12 (TOPMED)
AGAG=0.225728/837 (TWINSUK)
AGAG=0.231707/893 (ALSPAC)
HGVS:: NC_000017.11:g.71122830GA[10], NC_000017.11:g.71122830GA[11], NC_000017.11:g.71122830GA[12], NC_000017.11:g.71122830GA[13], NC_000017.11:g.71122830GA[14], NC_000017.11:g.71122830GA[15], NC_000017.11:g.71122830GA[16], NC_000017.11:g.71122830GA[17], NC_000017.11:g.71122830GA[18], NC_000017.11:g.71122830GA[20], NC_000017.11:g.71122830GA[21], NC_000017.11:g.71122830GA[22], NC_000017.11:g.71122830GA[23], NC_000017.11:g.71122830GA[24], NC_000017.11:g.71122830GA[25], NC_000017.11:g.71122830GA[26], NC_000017.11:g.71122830GA[27], NC_000017.11:g.71122830GA[28], NC_000017.11:g.71122830GA[29], NC_000017.11:g.71122830GA[30], NC_000017.11:g.71122830GA[31], NC_000017.11:g.71122830GA[32], NC_000017.11:g.71122830GA[33], NC_000017.11:g.71122830GA[34], NC_000017.10:g.69118971GA[10], NC_000017.10:g.69118971GA[11], NC_000017.10:g.69118971GA[12], NC_000017.10:g.69118971GA[13], NC_000017.10:g.69118971GA[14], NC_000017.10:g.69118971GA[15], NC_000017.10:g.69118971GA[16], NC_000017.10:g.69118971GA[17], NC_000017.10:g.69118971GA[18], NC_000017.10:g.69118971GA[20], NC_000017.10:g.69118971GA[21], NC_000017.10:g.69118971GA[22], NC_000017.10:g.69118971GA[23], NC_000017.10:g.69118971GA[24], NC_000017.10:g.69118971GA[25], NC_000017.10:g.69118971GA[26], NC_000017.10:g.69118971GA[27], NC_000017.10:g.69118971GA[28], NC_000017.10:g.69118971GA[29], NC_000017.10:g.69118971GA[30], NC_000017.10:g.69118971GA[31], NC_000017.10:g.69118971GA[32], NC_000017.10:g.69118971GA[33], NC_000017.10:g.69118971GA[34]

Select item 149130966813.

rs1491309668 has merged into rs34980485 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAATAATTATTTTTTTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAATTTTTTTTTTTTTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAACCAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:71163534 (GRCh38)
17:69159675 (GRCh37)
Canonical SPDI:: NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAATAATTATTTTTTTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAATTTTTTTTTTTTTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:71163523:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAACCAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CASC17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.71163534_71163545del, NC_000017.11:g.71163535_71163545del, NC_000017.11:g.71163537_71163545del, NC_000017.11:g.71163538_71163545del, NC_000017.11:g.71163539_71163545del, NC_000017.11:g.71163540_71163545del, NC_000017.11:g.71163541_71163545del, NC_000017.11:g.71163542_71163545del, NC_000017.11:g.71163543_71163545del, NC_000017.11:g.71163544_71163545del, NC_000017.11:g.71163545del, NC_000017.11:g.71163545dup, NC_000017.11:g.71163544_71163545dup, NC_000017.11:g.71163543_71163545dup, NC_000017.11:g.71163542_71163545dup, NC_000017.11:g.71163541_71163545dup, NC_000017.11:g.71163540_71163545dup, NC_000017.11:g.71163539_71163545dup, NC_000017.11:g.71163538_71163545dup, NC_000017.11:g.71163537_71163545dup, NC_000017.11:g.71163536_71163545dup, NC_000017.11:g.71163535_71163545dup, NC_000017.11:g.71163534_71163545dup, NC_000017.11:g.71163533_71163545dup, NC_000017.11:g.71163532_71163545dup, NC_000017.11:g.71163531_71163545dup, NC_000017.11:g.71163524_71163545A[25]CAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.11:g.71163524_71163545A[25]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.11:g.71163524_71163545A[24]CAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.11:g.71163524_71163545A[23]TAATTATTTTTTTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.11:g.71163524_71163545A[23]T[14]A[35], NC_000017.11:g.71163524_71163545A[22]CCAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.69159675_69159686del, NC_000017.10:g.69159676_69159686del, NC_000017.10:g.69159678_69159686del, NC_000017.10:g.69159679_69159686del, NC_000017.10:g.69159680_69159686del, NC_000017.10:g.69159681_69159686del, NC_000017.10:g.69159682_69159686del, NC_000017.10:g.69159683_69159686del, NC_000017.10:g.69159684_69159686del, NC_000017.10:g.69159685_69159686del, NC_000017.10:g.69159686del, NC_000017.10:g.69159686dup, NC_000017.10:g.69159685_69159686dup, NC_000017.10:g.69159684_69159686dup, NC_000017.10:g.69159683_69159686dup, NC_000017.10:g.69159682_69159686dup, NC_000017.10:g.69159681_69159686dup, NC_000017.10:g.69159680_69159686dup, NC_000017.10:g.69159679_69159686dup, NC_000017.10:g.69159678_69159686dup, NC_000017.10:g.69159677_69159686dup, NC_000017.10:g.69159676_69159686dup, NC_000017.10:g.69159675_69159686dup, NC_000017.10:g.69159674_69159686dup, NC_000017.10:g.69159673_69159686dup, NC_000017.10:g.69159672_69159686dup, NC_000017.10:g.69159665_69159686A[25]CAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.69159665_69159686A[25]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.69159665_69159686A[24]CAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.69159665_69159686A[23]TAATTATTTTTTTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.69159665_69159686A[23]T[14]A[35], NC_000017.10:g.69159665_69159686A[22]CCAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 149123979714.

rs1491239797 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:71203723 (GRCh38)
17:69199864 (GRCh37)
Canonical SPDI:: NC_000017.11:71203722:CA:
Gene:: CASC17 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00135/16 (ALFA)
HGVS:: NC_000017.11:g.71203723_71203724del, NC_000017.10:g.69199864_69199865del

Select item 149123862415.

rs1491238624 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:71109867 (GRCh38)
17:69106008 (GRCh37)
Canonical SPDI:: NC_000017.11:71109866:TA:
Gene:: CASC17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.010032/119 (ALFA)
-=0.000035/1 (TOMMO)
-=0.015226/2119 (GnomAD)
-=0.016204/4289 (TOPMED)
-=0.019051/122 (1000Genomes)
HGVS:: NC_000017.11:g.71109867_71109868del, NC_000017.10:g.69106008_69106009del

Select item 149119325416.

rs1491193254 has merged into rs10555877 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 17:71194293 (GRCh38)
17:69190434 (GRCh37)
Canonical SPDI:: NC_000017.11:71194282:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:71194282:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:71194282:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:71194282:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:71194282:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: CASC17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.4917/1917 (1000Genomes)
AA=0.4982/1920 (ALSPAC)
HGVS:: NC_000017.11:g.71194293_71194295del, NC_000017.11:g.71194294_71194295del, NC_000017.11:g.71194295del, NC_000017.11:g.71194295dup, NC_000017.11:g.71194294_71194295dup, NC_000017.10:g.69190434_69190436del, NC_000017.10:g.69190435_69190436del, NC_000017.10:g.69190436del, NC_000017.10:g.69190436dup, NC_000017.10:g.69190435_69190436dup

Select item 149115279117.

rs1491152791 has merged into rs1555609924 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,CCCC,CCCCCC,CCCCCCCC [Show Flanks]
Chromosome:: 17:71156529 (GRCh38)
17:69152670 (GRCh37)
Canonical SPDI:: NC_000017.11:71156526:CCCC:CC,NC_000017.11:71156526:CCCC:CCCCCC,NC_000017.11:71156526:CCCC:CCCCCCCC,NC_000017.11:71156526:CCCC:CCCCCCCCCC
Gene:: CASC17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0./0 (ALFA)
CCCCCC=0.000004/1 (TOPMED)
-=0.003275/6 (Korea1K)
-=0.00368/62 (TOMMO)
HGVS:: NC_000017.11:g.71156529_71156530del, NC_000017.11:g.71156529_71156530dup, NC_000017.11:g.71156527_71156530dup, NC_000017.11:g.71156530_71156531insCCCCCC, NC_000017.10:g.69152670_69152671del, NC_000017.10:g.69152670_69152671dup, NC_000017.10:g.69152668_69152671dup, NC_000017.10:g.69152671_69152672insCCCCCC

Select item 149115258718.

rs1491152587 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:71186376 (GRCh38)
17:69182518 (GRCh37)
Canonical SPDI:: NC_000017.11:71186376::C
Gene:: CASC17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.00005/4 (GnomAD)
HGVS:: NC_000017.11:g.71186376_71186377insC, NC_000017.10:g.69182517_69182518insC

Select item 149115245819.

rs1491152458 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:71163523 (GRCh38)
17:69159664 (GRCh37)
Canonical SPDI:: NC_000017.11:71163522:CA:
Gene:: CASC17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000017.11:g.71163523_71163524del, NC_000017.10:g.69159664_69159665del

Select item 149112359720.

rs1491123597 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACACACACACCC,ACACACACCC,ACACACCC,ACACC,ACACCC,ACACCCCC,ACC,ACCC,ACCCCC [Show Flanks]
Chromosome:: 17:71156526 (GRCh38)
17:69152668 (GRCh37)
Canonical SPDI:: NC_000017.11:71156526:C:CACACACACACCC,NC_000017.11:71156526:C:CACACACACCC,NC_000017.11:71156526:C:CACACACCC,NC_000017.11:71156526:C:CACACC,NC_000017.11:71156526:C:CACACCC,NC_000017.11:71156526:C:CACACCCCC,NC_000017.11:71156526:C:CACC,NC_000017.11:71156526:C:CACCC,NC_000017.11:71156526:C:CACCCCC
Gene:: CASC17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACCC=0./0 (ALFA)
HGVS:: NC_000017.11:g.71156527CA[5]CCC[1], NC_000017.11:g.71156527CA[4]CCC[1], NC_000017.11:g.71156527CA[3]CCC[1], NC_000017.11:g.71156527CA[2]CC[1], NC_000017.11:g.71156527CA[2]CCC[1], NC_000017.11:g.71156527CA[2]C[5], NC_000017.11:g.71156527_71156528insACC, NC_000017.11:g.71156527_71156528insACCC, NC_000017.11:g.71156527_71156528insACCCCC, NC_000017.10:g.69152668CA[5]CCC[1], NC_000017.10:g.69152668CA[4]CCC[1], NC_000017.10:g.69152668CA[3]CCC[1], NC_000017.10:g.69152668CA[2]CC[1], NC_000017.10:g.69152668CA[2]CCC[1], NC_000017.10:g.69152668CA[2]C[5], NC_000017.10:g.69152668_69152669insACC, NC_000017.10:g.69152668_69152669insACCC, NC_000017.10:g.69152668_69152669insACCCCC

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