SNP Links for Gene (Select 25927) - SNP

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Select item 14915865021.

rs1491586502 has merged into rs140524601 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 2:68296574 (GRCh38)
2:68523706 (GRCh37)
Canonical SPDI:: NC_000002.12:68296564:TGTGTGTGTGTGTGTGT:TGTGTGTGT,NC_000002.12:68296564:TGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000002.12:68296564:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000002.12:68296564:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000002.12:68296564:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000002.12:68296564:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000002.12:68296564:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:68296564:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:68296564:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:68296564:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:68296564:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:68296564:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:68296564:TGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: CNRIP1 (Varview), LOC107985892 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGT=0./0 (ALFA)
-=0.375/3 (KOREAN)
-=0.4159/2083 (1000Genomes)
HGVS:: NC_000002.12:g.68296566GT[4], NC_000002.12:g.68296566GT[5], NC_000002.12:g.68296566GT[6], NC_000002.12:g.68296566GT[7], NC_000002.12:g.68296566GT[9], NC_000002.12:g.68296566GT[10], NC_000002.12:g.68296566GT[11], NC_000002.12:g.68296566GT[12], NC_000002.12:g.68296566GT[13], NC_000002.12:g.68296566GT[14], NC_000002.12:g.68296566GT[15], NC_000002.12:g.68296566GT[16], NC_000002.12:g.68296566GT[17], NC_000002.11:g.68523698GT[4], NC_000002.11:g.68523698GT[5], NC_000002.11:g.68523698GT[6], NC_000002.11:g.68523698GT[7], NC_000002.11:g.68523698GT[9], NC_000002.11:g.68523698GT[10], NC_000002.11:g.68523698GT[11], NC_000002.11:g.68523698GT[12], NC_000002.11:g.68523698GT[13], NC_000002.11:g.68523698GT[14], NC_000002.11:g.68523698GT[15], NC_000002.11:g.68523698GT[16], NC_000002.11:g.68523698GT[17]

Select item 14915277112.

rs1491527711 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 2:68302866 (GRCh38)
2:68529998 (GRCh37)
Canonical SPDI:: NC_000002.12:68302865:TG:
Gene:: CNRIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.68302866_68302867del, NC_000002.11:g.68529998_68529999del

Select item 14915182393.

rs1491518239 has merged into rs527648471 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:68291890 (GRCh38)
2:68519022 (GRCh37)
Canonical SPDI:: NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68291878:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CNRIP1 (Varview), LOC107985892 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.68291890_68291899del, NC_000002.12:g.68291892_68291899del, NC_000002.12:g.68291893_68291899del, NC_000002.12:g.68291894_68291899del, NC_000002.12:g.68291895_68291899del, NC_000002.12:g.68291896_68291899del, NC_000002.12:g.68291897_68291899del, NC_000002.12:g.68291898_68291899del, NC_000002.12:g.68291899del, NC_000002.12:g.68291899dup, NC_000002.12:g.68291898_68291899dup, NC_000002.12:g.68291897_68291899dup, NC_000002.12:g.68291896_68291899dup, NC_000002.12:g.68291895_68291899dup, NC_000002.12:g.68291894_68291899dup, NC_000002.11:g.68519022_68519031del, NC_000002.11:g.68519024_68519031del, NC_000002.11:g.68519025_68519031del, NC_000002.11:g.68519026_68519031del, NC_000002.11:g.68519027_68519031del, NC_000002.11:g.68519028_68519031del, NC_000002.11:g.68519029_68519031del, NC_000002.11:g.68519030_68519031del, NC_000002.11:g.68519031del, NC_000002.11:g.68519031dup, NC_000002.11:g.68519030_68519031dup, NC_000002.11:g.68519029_68519031dup, NC_000002.11:g.68519028_68519031dup, NC_000002.11:g.68519027_68519031dup, NC_000002.11:g.68519026_68519031dup

Select item 14914765984.

rs1491476598 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:68301893 (GRCh38)
2:68529025 (GRCh37)
Canonical SPDI:: NC_000002.12:68301892:CA:
Gene:: CNRIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00135/16 (ALFA)
-=0.00026/7 (TOMMO)
HGVS:: NC_000002.12:g.68301893_68301894del, NC_000002.11:g.68529025_68529026del

Select item 14914115225.

rs1491411522 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA [Show Flanks]
Chromosome:: 2:68301893 (GRCh38)
2:68529026 (GRCh37)
Canonical SPDI:: NC_000002.12:68301893::CA
Gene:: CNRIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CA=0./0 (ALFA)
HGVS:: NC_000002.12:g.68301893_68301894insCA, NC_000002.11:g.68529025_68529026insCA

Select item 14913622336.

rs1491362233 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:68305809 (GRCh38)
2:68532942 (GRCh37)
Canonical SPDI:: NC_000002.12:68305809:C:CC
Gene:: CNRIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.68305810dup, NC_000002.11:g.68532942dup

Select item 14913354787.

rs1491335478 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:68302846 (GRCh38)
2:68529979 (GRCh37)
Canonical SPDI:: NC_000002.12:68302846::A
Gene:: CNRIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00002/2 (GnomAD)
HGVS:: NC_000002.12:g.68302846_68302847insA, NC_000002.11:g.68529978_68529979insA

Select item 14912845328.

rs1491284532 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:68291878 (GRCh38)
2:68519010 (GRCh37)
Canonical SPDI:: NC_000002.12:68291877:CA:
Gene:: CNRIP1 (Varview), LOC107985892 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.02875/341 (ALFA)
-=0.00169/3 (Korea1K)
-=0.00191/88 (GnomAD)
-=0.00722/121 (TOMMO)
HGVS:: NC_000002.12:g.68291878_68291879del, NC_000002.11:g.68519010_68519011del

Select item 14912053119.

rs1491205311 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:68305245 (GRCh38)
2:68532378 (GRCh37)
Canonical SPDI:: NC_000002.12:68305245::G
Gene:: CNRIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.68305245_68305246insG, NC_000002.11:g.68532377_68532378insG

Select item 149120315010.

rs1491203150 has merged into rs1214086385 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:68302856 (GRCh38)
2:68529988 (GRCh37)
Canonical SPDI:: NC_000002.12:68302845:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:68302845:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:68302845:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:68302845:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:68302845:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:68302845:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:68302845:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:68302845:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:68302845:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:68302845:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:68302845:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:68302845:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:68302845:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:68302845:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:68302845:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:68302845:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:68302845:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:68302845:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:68302845:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CNRIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.68302856_68302866del, NC_000002.12:g.68302857_68302866del, NC_000002.12:g.68302859_68302866del, NC_000002.12:g.68302860_68302866del, NC_000002.12:g.68302861_68302866del, NC_000002.12:g.68302862_68302866del, NC_000002.12:g.68302863_68302866del, NC_000002.12:g.68302864_68302866del, NC_000002.12:g.68302865_68302866del, NC_000002.12:g.68302866del, NC_000002.12:g.68302866dup, NC_000002.12:g.68302865_68302866dup, NC_000002.12:g.68302864_68302866dup, NC_000002.12:g.68302863_68302866dup, NC_000002.12:g.68302862_68302866dup, NC_000002.12:g.68302861_68302866dup, NC_000002.12:g.68302860_68302866dup, NC_000002.12:g.68302858_68302866dup, NC_000002.12:g.68302857_68302866dup, NC_000002.11:g.68529988_68529998del, NC_000002.11:g.68529989_68529998del, NC_000002.11:g.68529991_68529998del, NC_000002.11:g.68529992_68529998del, NC_000002.11:g.68529993_68529998del, NC_000002.11:g.68529994_68529998del, NC_000002.11:g.68529995_68529998del, NC_000002.11:g.68529996_68529998del, NC_000002.11:g.68529997_68529998del, NC_000002.11:g.68529998del, NC_000002.11:g.68529998dup, NC_000002.11:g.68529997_68529998dup, NC_000002.11:g.68529996_68529998dup, NC_000002.11:g.68529995_68529998dup, NC_000002.11:g.68529994_68529998dup, NC_000002.11:g.68529993_68529998dup, NC_000002.11:g.68529992_68529998dup, NC_000002.11:g.68529990_68529998dup, NC_000002.11:g.68529989_68529998dup

Select item 149118926411.

rs1491189264 has merged into rs1553415559 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>-,ACAC,ACACAC [Show Flanks]
Chromosome:: 2:68305823 (GRCh38)
2:68532955 (GRCh37)
Canonical SPDI:: NC_000002.12:68305808:ACACACACACACACAC:ACACACACACACAC,NC_000002.12:68305808:ACACACACACACACAC:ACACACACACACACACAC,NC_000002.12:68305808:ACACACACACACACAC:ACACACACACACACACACAC
Gene:: CNRIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACAC=0./0 (ALFA)
HGVS:: NC_000002.12:g.68305809AC[7], NC_000002.12:g.68305809AC[9], NC_000002.12:g.68305809AC[10], NC_000002.11:g.68532941AC[7], NC_000002.11:g.68532941AC[9], NC_000002.11:g.68532941AC[10]

Select item 149116231812.

rs1491162318 has merged into rs143458691 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 2:68306788 (GRCh38)
2:68533920 (GRCh37)
Canonical SPDI:: NC_000002.12:68306778:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:68306778:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:68306778:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:68306778:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:68306778:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:68306778:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: CNRIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3001/1503 (1000Genomes)
-=0.425/17 (GENOME_DK)
HGVS:: NC_000002.12:g.68306788_68306795del, NC_000002.12:g.68306793_68306795del, NC_000002.12:g.68306794_68306795del, NC_000002.12:g.68306795del, NC_000002.12:g.68306795dup, NC_000002.12:g.68306794_68306795dup, NC_000002.11:g.68533920_68533927del, NC_000002.11:g.68533925_68533927del, NC_000002.11:g.68533926_68533927del, NC_000002.11:g.68533927del, NC_000002.11:g.68533927dup, NC_000002.11:g.68533926_68533927dup

Select item 149114903113.

rs1491149031 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:68304092 (GRCh38)
2:68531224 (GRCh37)
Canonical SPDI:: NC_000002.12:68304090:ACA:A
Gene:: CNRIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00025/3 (ALFA)
HGVS:: NC_000002.12:g.68304092_68304093del, NC_000002.11:g.68531224_68531225del

Select item 149112689414.

rs1491126894 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:68302866 (GRCh38)
2:68529999 (GRCh37)
Canonical SPDI:: NC_000002.12:68302866:G:GG
Gene:: CNRIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000002.12:g.68302867dup, NC_000002.11:g.68529999dup

Select item 149111954515.

rs1491119545 has merged into rs60243249 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:68305251 (GRCh38)
2:68532383 (GRCh37)
Canonical SPDI:: NC_000002.12:68305244:AAAAAAAAAAAAAAAA:AAAAAA,NC_000002.12:68305244:AAAAAAAAAAAAAAAA:AAAAAAA,NC_000002.12:68305244:AAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:68305244:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:68305244:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:68305244:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:68305244:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:68305244:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:68305244:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:68305244:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:68305244:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:68305244:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:68305244:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:68305244:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:68305244:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68305244:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68305244:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68305244:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68305244:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CNRIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.68305251_68305260del, NC_000002.12:g.68305252_68305260del, NC_000002.12:g.68305253_68305260del, NC_000002.12:g.68305254_68305260del, NC_000002.12:g.68305255_68305260del, NC_000002.12:g.68305256_68305260del, NC_000002.12:g.68305257_68305260del, NC_000002.12:g.68305258_68305260del, NC_000002.12:g.68305259_68305260del, NC_000002.12:g.68305260del, NC_000002.12:g.68305260dup, NC_000002.12:g.68305259_68305260dup, NC_000002.12:g.68305258_68305260dup, NC_000002.12:g.68305257_68305260dup, NC_000002.12:g.68305256_68305260dup, NC_000002.12:g.68305255_68305260dup, NC_000002.12:g.68305254_68305260dup, NC_000002.12:g.68305253_68305260dup, NC_000002.12:g.68305251_68305260dup, NC_000002.11:g.68532383_68532392del, NC_000002.11:g.68532384_68532392del, NC_000002.11:g.68532385_68532392del, NC_000002.11:g.68532386_68532392del, NC_000002.11:g.68532387_68532392del, NC_000002.11:g.68532388_68532392del, NC_000002.11:g.68532389_68532392del, NC_000002.11:g.68532390_68532392del, NC_000002.11:g.68532391_68532392del, NC_000002.11:g.68532392del, NC_000002.11:g.68532392dup, NC_000002.11:g.68532391_68532392dup, NC_000002.11:g.68532390_68532392dup, NC_000002.11:g.68532389_68532392dup, NC_000002.11:g.68532388_68532392dup, NC_000002.11:g.68532387_68532392dup, NC_000002.11:g.68532386_68532392dup, NC_000002.11:g.68532385_68532392dup, NC_000002.11:g.68532383_68532392dup

Select item 149105507716.

rs1491055077 has merged into rs5831925 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 2:68284384 (GRCh38)
2:68511516 (GRCh37)
Canonical SPDI:: NC_000002.12:68284374:AAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:68284374:AAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:68284374:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:68284374:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:68284374:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:68284374:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:68284374:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: CNRIP1 (Varview), LOC107985892 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.68284384_68284386del, NC_000002.12:g.68284385_68284386del, NC_000002.12:g.68284386del, NC_000002.12:g.68284386dup, NC_000002.12:g.68284385_68284386dup, NC_000002.12:g.68284383_68284386dup, NC_000002.12:g.68284379_68284386dup, NC_000002.11:g.68511516_68511518del, NC_000002.11:g.68511517_68511518del, NC_000002.11:g.68511518del, NC_000002.11:g.68511518dup, NC_000002.11:g.68511517_68511518dup, NC_000002.11:g.68511515_68511518dup, NC_000002.11:g.68511511_68511518dup, NM_001111101.2:c.*51_*53del, NM_001111101.2:c.*52_*53del, NM_001111101.2:c.*53del, NM_001111101.2:c.*53dup, NM_001111101.2:c.*52_*53dup, NM_001111101.2:c.*50_*53dup, NM_001111101.2:c.*46_*53dup, NM_001111101.1:c.*51_*53del, NM_001111101.1:c.*52_*53del, NM_001111101.1:c.*53del, NM_001111101.1:c.*53dup, NM_001111101.1:c.*52_*53dup, NM_001111101.1:c.*50_*53dup, NM_001111101.1:c.*46_*53dup

Select item 149104131317.

rs1491041313 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:68304412 (GRCh38)
2:68531544 (GRCh37)
Canonical SPDI:: NC_000002.12:68304410:ATA:A
Gene:: CNRIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.68304412_68304413del, NC_000002.11:g.68531544_68531545del

Select item 149103221818.

rs1491032218 has merged into rs61613452 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:68301903 (GRCh38)
2:68529035 (GRCh37)
Canonical SPDI:: NC_000002.12:68301893:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:68301893:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:68301893:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:68301893:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:68301893:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:68301893:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:68301893:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:68301893:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:68301893:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:68301893:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:68301893:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:68301893:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68301893:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68301893:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68301893:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68301893:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68301893:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68301893:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68301893:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68301893:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68301893:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68301893:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68301893:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CNRIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.68301903_68301916del, NC_000002.12:g.68301905_68301916del, NC_000002.12:g.68301906_68301916del, NC_000002.12:g.68301907_68301916del, NC_000002.12:g.68301908_68301916del, NC_000002.12:g.68301909_68301916del, NC_000002.12:g.68301910_68301916del, NC_000002.12:g.68301911_68301916del, NC_000002.12:g.68301912_68301916del, NC_000002.12:g.68301913_68301916del, NC_000002.12:g.68301914_68301916del, NC_000002.12:g.68301915_68301916del, NC_000002.12:g.68301916del, NC_000002.12:g.68301916dup, NC_000002.12:g.68301915_68301916dup, NC_000002.12:g.68301914_68301916dup, NC_000002.12:g.68301913_68301916dup, NC_000002.12:g.68301912_68301916dup, NC_000002.12:g.68301911_68301916dup, NC_000002.12:g.68301910_68301916dup, NC_000002.12:g.68301909_68301916dup, NC_000002.12:g.68301906_68301916dup, NC_000002.12:g.68301896_68301916dup, NC_000002.11:g.68529035_68529048del, NC_000002.11:g.68529037_68529048del, NC_000002.11:g.68529038_68529048del, NC_000002.11:g.68529039_68529048del, NC_000002.11:g.68529040_68529048del, NC_000002.11:g.68529041_68529048del, NC_000002.11:g.68529042_68529048del, NC_000002.11:g.68529043_68529048del, NC_000002.11:g.68529044_68529048del, NC_000002.11:g.68529045_68529048del, NC_000002.11:g.68529046_68529048del, NC_000002.11:g.68529047_68529048del, NC_000002.11:g.68529048del, NC_000002.11:g.68529048dup, NC_000002.11:g.68529047_68529048dup, NC_000002.11:g.68529046_68529048dup, NC_000002.11:g.68529045_68529048dup, NC_000002.11:g.68529044_68529048dup, NC_000002.11:g.68529043_68529048dup, NC_000002.11:g.68529042_68529048dup, NC_000002.11:g.68529041_68529048dup, NC_000002.11:g.68529038_68529048dup, NC_000002.11:g.68529028_68529048dup

Select item 149096138019.

rs1490961380 has merged into rs113940917 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTT [Show Flanks]
Chromosome:: 2:68291295 (GRCh38)
2:68518427 (GRCh37)
Canonical SPDI:: NC_000002.12:68291294:TTTTTTTTTT:TTTTTTTTT,NC_000002.12:68291294:TTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:68291294:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: CNRIP1 (Varview), LOC107985892 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.01833/11 (NorthernSweden)
-=0.02388/107 (Estonian)
-=0.03507/35 (GoNL)
-=0.13313/2231 (TOMMO)
-=0.19323/354 (Korea1K)
HGVS:: NC_000002.12:g.68291304del, NC_000002.12:g.68291304dup, NC_000002.12:g.68291303_68291304dup, NC_000002.11:g.68518436del, NC_000002.11:g.68518436dup, NC_000002.11:g.68518435_68518436dup

Select item 149091070620.

rs1490910706 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:68292190 (GRCh38)
2:68519322 (GRCh37)
Canonical SPDI:: NC_000002.12:68292189:A:G
Gene:: CNRIP1 (Varview), LOC107985892 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.68292190A>G, NC_000002.11:g.68519322A>G

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