SNP Links for Nucleotide (Select 328550517) - SNP

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Select item 14915867651.

rs1491586765 has merged into rs771421694 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGC>-,GC,GCGCGC [Show Flanks]
Chromosome:: 10:79183356 (GRCh38)
10:80943113 (GRCh37)
Canonical SPDI:: NC_000010.11:79183354:CGCGC:C,NC_000010.11:79183354:CGCGC:CGC,NC_000010.11:79183354:CGCGC:CGCGCGC
Gene:: ZMIZ1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGC=0.00019/3 (ALFA)
-=0.00006/1 (TOMMO)
HGVS:: NC_000010.11:g.79183356_79183359del, NC_000010.11:g.79183356GC[1], NC_000010.11:g.79183356GC[3], NC_000010.10:g.80943113_80943116del, NC_000010.10:g.80943113GC[1], NC_000010.10:g.80943113GC[3], NG_028289.1:g.119322_119325del, NG_028289.1:g.119322GC[1], NG_028289.1:g.119322GC[3]

Select item 14915832532.

rs1491583253 has merged into rs5786379 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACACA>-,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 10:79093153 (GRCh38)
10:80852910 (GRCh37)
Canonical SPDI:: NC_000010.11:79093135:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000010.11:79093135:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000010.11:79093135:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000010.11:79093135:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000010.11:79093135:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000010.11:79093135:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000010.11:79093135:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000010.11:79093135:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000010.11:79093135:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000010.11:79093135:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000010.11:79093135:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:79093135:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:79093135:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:79093135:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:79093135:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:79093135:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:79093135:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:79093135:ACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: ZMIZ1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACACACA=0./0 (ALFA)
ACAC=0.4169/2088 (1000Genomes)
HGVS:: NC_000010.11:g.79093137CA[8], NC_000010.11:g.79093137CA[11], NC_000010.11:g.79093137CA[12], NC_000010.11:g.79093137CA[13], NC_000010.11:g.79093137CA[14], NC_000010.11:g.79093137CA[15], NC_000010.11:g.79093137CA[16], NC_000010.11:g.79093137CA[17], NC_000010.11:g.79093137CA[18], NC_000010.11:g.79093137CA[19], NC_000010.11:g.79093137CA[21], NC_000010.11:g.79093137CA[22], NC_000010.11:g.79093137CA[23], NC_000010.11:g.79093137CA[24], NC_000010.11:g.79093137CA[25], NC_000010.11:g.79093137CA[26], NC_000010.11:g.79093137CA[27], NC_000010.11:g.79093137CA[28], NC_000010.10:g.80852894CA[8], NC_000010.10:g.80852894CA[11], NC_000010.10:g.80852894CA[12], NC_000010.10:g.80852894CA[13], NC_000010.10:g.80852894CA[14], NC_000010.10:g.80852894CA[15], NC_000010.10:g.80852894CA[16], NC_000010.10:g.80852894CA[17], NC_000010.10:g.80852894CA[18], NC_000010.10:g.80852894CA[19], NC_000010.10:g.80852894CA[21], NC_000010.10:g.80852894CA[22], NC_000010.10:g.80852894CA[23], NC_000010.10:g.80852894CA[24], NC_000010.10:g.80852894CA[25], NC_000010.10:g.80852894CA[26], NC_000010.10:g.80852894CA[27], NC_000010.10:g.80852894CA[28], NG_028289.1:g.29103CA[8], NG_028289.1:g.29103CA[11], NG_028289.1:g.29103CA[12], NG_028289.1:g.29103CA[13], NG_028289.1:g.29103CA[14], NG_028289.1:g.29103CA[15], NG_028289.1:g.29103CA[16], NG_028289.1:g.29103CA[17], NG_028289.1:g.29103CA[18], NG_028289.1:g.29103CA[19], NG_028289.1:g.29103CA[21], NG_028289.1:g.29103CA[22], NG_028289.1:g.29103CA[23], NG_028289.1:g.29103CA[24], NG_028289.1:g.29103CA[25], NG_028289.1:g.29103CA[26], NG_028289.1:g.29103CA[27], NG_028289.1:g.29103CA[28]

Select item 14915000143.

rs1491500014 has merged into rs375034492 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 10:79070154 (GRCh38)
10:80829911 (GRCh37)
Canonical SPDI:: NC_000010.11:79070146:GGGGGGGGG:GGGGGGG,NC_000010.11:79070146:GGGGGGGGG:GGGGGGGG,NC_000010.11:79070146:GGGGGGGGG:GGGGGGGGGG,NC_000010.11:79070146:GGGGGGGGG:GGGGGGGGGGG,NC_000010.11:79070146:GGGGGGGGG:GGGGGGGGGGGG,NC_000010.11:79070146:GGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000010.11:79070146:GGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000010.11:79070146:GGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
Gene:: ZMIZ1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
-=0.1014/57 (NorthernSweden)
-=0.3576/615 (Korea1K)
HGVS:: NC_000010.11:g.79070154_79070155del, NC_000010.11:g.79070155del, NC_000010.11:g.79070155dup, NC_000010.11:g.79070154_79070155dup, NC_000010.11:g.79070153_79070155dup, NC_000010.11:g.79070155_79070156insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000010.11:g.79070155_79070156insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000010.11:g.79070155_79070156insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000010.10:g.80829911_80829912del, NC_000010.10:g.80829912del, NC_000010.10:g.80829912dup, NC_000010.10:g.80829911_80829912dup, NC_000010.10:g.80829910_80829912dup, NC_000010.10:g.80829912_80829913insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000010.10:g.80829912_80829913insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000010.10:g.80829912_80829913insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_028289.1:g.6120_6121del, NG_028289.1:g.6121del, NG_028289.1:g.6121dup, NG_028289.1:g.6120_6121dup, NG_028289.1:g.6119_6121dup, NG_028289.1:g.6121_6122insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_028289.1:g.6121_6122insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_028289.1:g.6121_6122insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG

Select item 14914992744.

rs1491499274 has merged into rs776519074 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 10:79317812 (GRCh38)
10:81077569 (GRCh37)
Canonical SPDI:: NC_000010.11:79317795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000010.11:79317795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000010.11:79317795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000010.11:79317795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:79317795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:79317795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:79317795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:79317795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:79317795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:79317795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:79317795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:79317795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:79317795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:79317795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:79317795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:79317795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:79317795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:79317795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:79317795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:79317795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:79317795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:79317795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:79317795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:79317795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:79317795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000010.11:79317795:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000010.11:g.79317796GT[8], NC_000010.11:g.79317796GT[9], NC_000010.11:g.79317796GT[10], NC_000010.11:g.79317796GT[11], NC_000010.11:g.79317796GT[12], NC_000010.11:g.79317796GT[13], NC_000010.11:g.79317796GT[14], NC_000010.11:g.79317796GT[15], NC_000010.11:g.79317796GT[16], NC_000010.11:g.79317796GT[17], NC_000010.11:g.79317796GT[18], NC_000010.11:g.79317796GT[19], NC_000010.11:g.79317796GT[20], NC_000010.11:g.79317796GT[21], NC_000010.11:g.79317796GT[23], NC_000010.11:g.79317796GT[24], NC_000010.11:g.79317796GT[25], NC_000010.11:g.79317796GT[26], NC_000010.11:g.79317796GT[27], NC_000010.11:g.79317796GT[28], NC_000010.11:g.79317796GT[29], NC_000010.11:g.79317796GT[30], NC_000010.11:g.79317796GT[31], NC_000010.11:g.79317796GT[32], NC_000010.11:g.79317796GT[33], NC_000010.11:g.79317796GT[34], NC_000010.10:g.81077553GT[8], NC_000010.10:g.81077553GT[9], NC_000010.10:g.81077553GT[10], NC_000010.10:g.81077553GT[11], NC_000010.10:g.81077553GT[12], NC_000010.10:g.81077553GT[13], NC_000010.10:g.81077553GT[14], NC_000010.10:g.81077553GT[15], NC_000010.10:g.81077553GT[16], NC_000010.10:g.81077553GT[17], NC_000010.10:g.81077553GT[18], NC_000010.10:g.81077553GT[19], NC_000010.10:g.81077553GT[20], NC_000010.10:g.81077553GT[21], NC_000010.10:g.81077553GT[23], NC_000010.10:g.81077553GT[24], NC_000010.10:g.81077553GT[25], NC_000010.10:g.81077553GT[26], NC_000010.10:g.81077553GT[27], NC_000010.10:g.81077553GT[28], NC_000010.10:g.81077553GT[29], NC_000010.10:g.81077553GT[30], NC_000010.10:g.81077553GT[31], NC_000010.10:g.81077553GT[32], NC_000010.10:g.81077553GT[33], NC_000010.10:g.81077553GT[34], NG_028289.1:g.253762GT[8], NG_028289.1:g.253762GT[9], NG_028289.1:g.253762GT[10], NG_028289.1:g.253762GT[11], NG_028289.1:g.253762GT[12], NG_028289.1:g.253762GT[13], NG_028289.1:g.253762GT[14], NG_028289.1:g.253762GT[15], NG_028289.1:g.253762GT[16], NG_028289.1:g.253762GT[17], NG_028289.1:g.253762GT[18], NG_028289.1:g.253762GT[19], NG_028289.1:g.253762GT[20], NG_028289.1:g.253762GT[21], NG_028289.1:g.253762GT[23], NG_028289.1:g.253762GT[24], NG_028289.1:g.253762GT[25], NG_028289.1:g.253762GT[26], NG_028289.1:g.253762GT[27], NG_028289.1:g.253762GT[28], NG_028289.1:g.253762GT[29], NG_028289.1:g.253762GT[30], NG_028289.1:g.253762GT[31], NG_028289.1:g.253762GT[32], NG_028289.1:g.253762GT[33], NG_028289.1:g.253762GT[34]

Select item 14914558855.

rs1491455885 has merged into rs35682814 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:79265479 (GRCh38)
10:81025236 (GRCh37)
Canonical SPDI:: NC_000010.11:79265468:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:79265468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:79265468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:79265468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:79265468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:79265468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:79265468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:79265468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:79265468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:79265468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:79265468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZMIZ1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.00683/4 (NorthernSweden)
HGVS:: NC_000010.11:g.79265479_79265485del, NC_000010.11:g.79265480_79265485del, NC_000010.11:g.79265481_79265485del, NC_000010.11:g.79265482_79265485del, NC_000010.11:g.79265483_79265485del, NC_000010.11:g.79265484_79265485del, NC_000010.11:g.79265485del, NC_000010.11:g.79265485dup, NC_000010.11:g.79265484_79265485dup, NC_000010.11:g.79265483_79265485dup, NC_000010.11:g.79265472_79265485dup, NC_000010.10:g.81025236_81025242del, NC_000010.10:g.81025237_81025242del, NC_000010.10:g.81025238_81025242del, NC_000010.10:g.81025239_81025242del, NC_000010.10:g.81025240_81025242del, NC_000010.10:g.81025241_81025242del, NC_000010.10:g.81025242del, NC_000010.10:g.81025242dup, NC_000010.10:g.81025241_81025242dup, NC_000010.10:g.81025240_81025242dup, NC_000010.10:g.81025229_81025242dup, NG_028289.1:g.201445_201451del, NG_028289.1:g.201446_201451del, NG_028289.1:g.201447_201451del, NG_028289.1:g.201448_201451del, NG_028289.1:g.201449_201451del, NG_028289.1:g.201450_201451del, NG_028289.1:g.201451del, NG_028289.1:g.201451dup, NG_028289.1:g.201450_201451dup, NG_028289.1:g.201449_201451dup, NG_028289.1:g.201438_201451dup

Select item 14914191676.

rs1491419167 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:79265469 (GRCh38)
10:81025227 (GRCh37)
Canonical SPDI:: NC_000010.11:79265469::C
Gene:: ZMIZ1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.79265469_79265470insC, NC_000010.10:g.81025226_81025227insC, NG_028289.1:g.201435_201436insC

Select item 14913723147.

rs1491372314 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 10:79314005 (GRCh38)
10:81073762 (GRCh37)
Canonical SPDI:: NC_000010.11:79314004:TG:
Gene:: ZMIZ1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.00008/1 (ExAC)
HGVS:: NC_000010.11:g.79314005_79314006del, NC_000010.10:g.81073762_81073763del, NG_028289.1:g.249971_249972del, NM_020338.4:c.*1256_*1257del, NM_020338.3:c.*1256_*1257del, XM_005269988.4:c.*1256_*1257del, XM_005269988.3:c.*1256_*1257del, XM_005269988.2:c.*1256_*1257del, XM_005269988.1:c.*1256_*1257del, XM_006717923.4:c.*1256_*1257del, XM_006717923.3:c.*1256_*1257del, XM_006717923.2:c.*1256_*1257del, XM_006717923.1:c.*1256_*1257del, XM_006717924.4:c.*1256_*1257del, XM_006717924.3:c.*1256_*1257del, XM_006717924.2:c.*1256_*1257del, XM_006717924.1:c.*1256_*1257del, XM_006717925.4:c.*1256_*1257del, XM_006717925.3:c.*1256_*1257del, XM_006717925.2:c.*1256_*1257del, XM_011539979.2:c.*1256_*1257del, XM_011539979.1:c.*1256_*1257del, XM_047425538.1:c.*1256_*1257del, XM_047425539.1:c.*1256_*1257del, XM_047425541.1:c.*1256_*1257del, XM_047425540.1:c.*1256_*1257del, XM_047425542.1:c.*1256_*1257del, XM_047425543.1:c.*1256_*1257del

Select item 14913671138.

rs1491367113 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 10:79114478 (GRCh38)
10:80874236 (GRCh37)
Canonical SPDI:: NC_000010.11:79114478:G:GCG
Gene:: ZMIZ1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GCG=0./0 (ALFA)
HGVS:: NC_000010.11:g.79114479_79114480insCG, NC_000010.10:g.80874236_80874237insCG, NG_028289.1:g.50445_50446insCG

Select item 14913520929.

rs1491352092 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:79177294 (GRCh38)
10:80937051 (GRCh37)
Canonical SPDI:: NC_000010.11:79177292:ACA:A
Gene:: ZMIZ1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
HGVS:: NC_000010.11:g.79177294_79177295del, NC_000010.10:g.80937051_80937052del, NG_028289.1:g.113260_113261del

Select item 149134422710.

rs1491344227 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:79218607 (GRCh38)
10:80978364 (GRCh37)
Canonical SPDI:: NC_000010.11:79218605:TCT:T
Gene:: ZMIZ1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000857/14 (ALFA)
-=0.000327/43 (GnomAD)
-=0.001062/18 (TOMMO)
-=0.001092/2 (Korea1K)
-=0.009681/62 (1000Genomes)
-=0.078879/304 (ALSPAC)
-=0.084142/312 (TWINSUK)
HGVS:: NC_000010.11:g.79218607_79218608del, NC_000010.10:g.80978364_80978365del, NG_028289.1:g.154573_154574del

Select item 149132546211.

rs1491325462 has merged into rs58837494 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG,GGGGGG [Show Flanks]
Chromosome:: 10:79137834 (GRCh38)
10:80897591 (GRCh37)
Canonical SPDI:: NC_000010.11:79137826:GGGGGGGGGG:GGGGGGG,NC_000010.11:79137826:GGGGGGGGGG:GGGGGGGG,NC_000010.11:79137826:GGGGGGGGGG:GGGGGGGGG,NC_000010.11:79137826:GGGGGGGGGG:GGGGGGGGGGG,NC_000010.11:79137826:GGGGGGGGGG:GGGGGGGGGGGG,NC_000010.11:79137826:GGGGGGGGGG:GGGGGGGGGGGGG
Gene:: ZMIZ1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
-=0.0418/155 (TWINSUK)
-=0.04307/166 (ALSPAC)
-=0.175/7 (GENOME_DK)
-=0.25879/1296 (1000Genomes)
HGVS:: NC_000010.11:g.79137834_79137836del, NC_000010.11:g.79137835_79137836del, NC_000010.11:g.79137836del, NC_000010.11:g.79137836dup, NC_000010.11:g.79137835_79137836dup, NC_000010.11:g.79137834_79137836dup, NC_000010.10:g.80897591_80897593del, NC_000010.10:g.80897592_80897593del, NC_000010.10:g.80897593del, NC_000010.10:g.80897593dup, NC_000010.10:g.80897592_80897593dup, NC_000010.10:g.80897591_80897593dup, NG_028289.1:g.73800_73802del, NG_028289.1:g.73801_73802del, NG_028289.1:g.73802del, NG_028289.1:g.73802dup, NG_028289.1:g.73801_73802dup, NG_028289.1:g.73800_73802dup

Select item 149131682812.

rs1491316828 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GTGTGTG [Show Flanks]
Chromosome:: 10:79114476 (GRCh38)
10:80874234 (GRCh37)
Canonical SPDI:: NC_000010.11:79114476::G,NC_000010.11:79114476::GTGTGTG
Gene:: ZMIZ1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
HGVS:: NC_000010.11:g.79114476_79114477insG, NC_000010.11:g.79114476_79114477insGTGTGTG, NC_000010.10:g.80874233_80874234insG, NC_000010.10:g.80874233_80874234insGTGTGTG, NG_028289.1:g.50442_50443insG, NG_028289.1:g.50442_50443insGTGTGTG

Select item 149130128313.

rs1491301283 has merged into rs869134970 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 10:79165949 (GRCh38)
10:80925707 (GRCh37)
Canonical SPDI:: NC_000010.11:79165949:G:GCG
Gene:: ZMIZ1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: GC=0.01524/566 (GnomAD)
HGVS:: NC_000010.11:g.79165950_79165951insCG, NC_000010.10:g.80925707_80925708insCG, NG_028289.1:g.101916_101917insCG

Select item 149127280514.

rs1491272805 has merged into rs71482719 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACACACACACACACACAC>-,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACACACACACACACAC [Show Flanks]
Chromosome:: 10:79197626 (GRCh38)
10:80957383 (GRCh37)
Canonical SPDI:: NC_000010.11:79197611:ACACACACACACACACACACACACACACACAC:ACACACACACACAC,NC_000010.11:79197611:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACAC,NC_000010.11:79197611:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACAC,NC_000010.11:79197611:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACAC,NC_000010.11:79197611:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000010.11:79197611:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACAC,NC_000010.11:79197611:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACAC,NC_000010.11:79197611:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACAC,NC_000010.11:79197611:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACAC,NC_000010.11:79197611:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACAC,NC_000010.11:79197611:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACAC,NC_000010.11:79197611:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACAC,NC_000010.11:79197611:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACAC,NC_000010.11:79197611:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000010.11:79197611:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000010.11:79197611:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000010.11:79197611:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000010.11:79197611:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000010.11:79197611:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000010.11:79197611:ACACACACACACACACACACACACACACACAC:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACAC
Gene:: ZMIZ1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACACAC=0./0 (ALFA)
HGVS:: NC_000010.11:g.79197612AC[7], NC_000010.11:g.79197612AC[11], NC_000010.11:g.79197612AC[12], NC_000010.11:g.79197612AC[13], NC_000010.11:g.79197612AC[14], NC_000010.11:g.79197612AC[15], NC_000010.11:g.79197612AC[17], NC_000010.11:g.79197612AC[18], NC_000010.11:g.79197612AC[19], NC_000010.11:g.79197612AC[20], NC_000010.11:g.79197612AC[21], NC_000010.11:g.79197612AC[22], NC_000010.11:g.79197612AC[23], NC_000010.11:g.79197612AC[24], NC_000010.11:g.79197612AC[25], NC_000010.11:g.79197612AC[26], NC_000010.11:g.79197612AC[27], NC_000010.11:g.79197612AC[28], NC_000010.11:g.79197612AC[29], NC_000010.11:g.79197612AC[30], NC_000010.10:g.80957369AC[7], NC_000010.10:g.80957369AC[11], NC_000010.10:g.80957369AC[12], NC_000010.10:g.80957369AC[13], NC_000010.10:g.80957369AC[14], NC_000010.10:g.80957369AC[15], NC_000010.10:g.80957369AC[17], NC_000010.10:g.80957369AC[18], NC_000010.10:g.80957369AC[19], NC_000010.10:g.80957369AC[20], NC_000010.10:g.80957369AC[21], NC_000010.10:g.80957369AC[22], NC_000010.10:g.80957369AC[23], NC_000010.10:g.80957369AC[24], NC_000010.10:g.80957369AC[25], NC_000010.10:g.80957369AC[26], NC_000010.10:g.80957369AC[27], NC_000010.10:g.80957369AC[28], NC_000010.10:g.80957369AC[29], NC_000010.10:g.80957369AC[30], NG_028289.1:g.133578AC[7], NG_028289.1:g.133578AC[11], NG_028289.1:g.133578AC[12], NG_028289.1:g.133578AC[13], NG_028289.1:g.133578AC[14], NG_028289.1:g.133578AC[15], NG_028289.1:g.133578AC[17], NG_028289.1:g.133578AC[18], NG_028289.1:g.133578AC[19], NG_028289.1:g.133578AC[20], NG_028289.1:g.133578AC[21], NG_028289.1:g.133578AC[22], NG_028289.1:g.133578AC[23], NG_028289.1:g.133578AC[24], NG_028289.1:g.133578AC[25], NG_028289.1:g.133578AC[26], NG_028289.1:g.133578AC[27], NG_028289.1:g.133578AC[28], NG_028289.1:g.133578AC[29], NG_028289.1:g.133578AC[30]

Select item 149125510115.

rs1491255101 has merged into rs1215426437 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTGTG,TGTGTGTGTGTG [Show Flanks]
Chromosome:: 10:79114486 (GRCh38)
10:80874243 (GRCh37)
Canonical SPDI:: NC_000010.11:79114477:TGTGTGTGTGTGTGTG:TGTGTGTG,NC_000010.11:79114477:TGTGTGTGTGTGTGTG:TGTGTGTGTG,NC_000010.11:79114477:TGTGTGTGTGTGTGTG:TGTGTGTGTGTG,NC_000010.11:79114477:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000010.11:79114477:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000010.11:79114477:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG
Gene:: ZMIZ1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTG=0./0 (ALFA)
HGVS:: NC_000010.11:g.79114478TG[4], NC_000010.11:g.79114478TG[5], NC_000010.11:g.79114478TG[6], NC_000010.11:g.79114478TG[7], NC_000010.11:g.79114478TG[9], NC_000010.11:g.79114478TG[10], NC_000010.10:g.80874235TG[4], NC_000010.10:g.80874235TG[5], NC_000010.10:g.80874235TG[6], NC_000010.10:g.80874235TG[7], NC_000010.10:g.80874235TG[9], NC_000010.10:g.80874235TG[10], NG_028289.1:g.50444TG[4], NG_028289.1:g.50444TG[5], NG_028289.1:g.50444TG[6], NG_028289.1:g.50444TG[7], NG_028289.1:g.50444TG[9], NG_028289.1:g.50444TG[10]

Select item 149122475316.

rs1491224753 has merged into rs59789220 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,GGGG [Show Flanks]
Chromosome:: 10:79166003 (GRCh38)
10:80925760 (GRCh37)
Canonical SPDI:: NC_000010.11:79166001:GGG:G,NC_000010.11:79166001:GGG:GGGGG
Gene:: ZMIZ1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000010.11:g.79166003_79166004del, NC_000010.11:g.79166003_79166004dup, NC_000010.10:g.80925760_80925761del, NC_000010.10:g.80925760_80925761dup, NG_028289.1:g.101969_101970del, NG_028289.1:g.101969_101970dup

Select item 149121873517.

rs1491218735 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG,CG,TG [Show Flanks]
Chromosome:: 10:79067987 (GRCh38)
10:80827745 (GRCh37)
Canonical SPDI:: NC_000010.11:79067987:G:GAG,NC_000010.11:79067987:G:GCG,NC_000010.11:79067987:G:GTG
Gene:: ZMIZ1 (Varview), ZMIZ1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCG=0./0 (ALFA)
HGVS:: NC_000010.11:g.79067988_79067989insAG, NC_000010.11:g.79067988_79067989insCG, NC_000010.11:g.79067988_79067989insTG, NC_000010.10:g.80827745_80827746insAG, NC_000010.10:g.80827745_80827746insCG, NC_000010.10:g.80827745_80827746insTG, NG_028289.1:g.3954_3955insAG, NG_028289.1:g.3954_3955insCG, NG_028289.1:g.3954_3955insTG

Select item 149118275218.

rs1491182752 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,C,T [Show Flanks]
Chromosome:: 10:79294943 (GRCh38)
10:81054701 (GRCh37)
Canonical SPDI:: NC_000010.11:79294943::A,NC_000010.11:79294943::C,NC_000010.11:79294943::T
Gene:: ZMIZ1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00064/10 (TOMMO)
HGVS:: NC_000010.11:g.79294943_79294944insA, NC_000010.11:g.79294943_79294944insC, NC_000010.11:g.79294943_79294944insT, NC_000010.10:g.81054700_81054701insA, NC_000010.10:g.81054700_81054701insC, NC_000010.10:g.81054700_81054701insT, NG_028289.1:g.230909_230910insA, NG_028289.1:g.230909_230910insC, NG_028289.1:g.230909_230910insT

Select item 149113953319.

rs1491139533 has merged into rs35682814 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:79265479 (GRCh38)
10:81025236 (GRCh37)
Canonical SPDI:: NC_000010.11:79265468:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:79265468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:79265468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:79265468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:79265468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:79265468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:79265468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:79265468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:79265468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:79265468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:79265468:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZMIZ1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.00683/4 (NorthernSweden)
HGVS:: NC_000010.11:g.79265479_79265485del, NC_000010.11:g.79265480_79265485del, NC_000010.11:g.79265481_79265485del, NC_000010.11:g.79265482_79265485del, NC_000010.11:g.79265483_79265485del, NC_000010.11:g.79265484_79265485del, NC_000010.11:g.79265485del, NC_000010.11:g.79265485dup, NC_000010.11:g.79265484_79265485dup, NC_000010.11:g.79265483_79265485dup, NC_000010.11:g.79265472_79265485dup, NC_000010.10:g.81025236_81025242del, NC_000010.10:g.81025237_81025242del, NC_000010.10:g.81025238_81025242del, NC_000010.10:g.81025239_81025242del, NC_000010.10:g.81025240_81025242del, NC_000010.10:g.81025241_81025242del, NC_000010.10:g.81025242del, NC_000010.10:g.81025242dup, NC_000010.10:g.81025241_81025242dup, NC_000010.10:g.81025240_81025242dup, NC_000010.10:g.81025229_81025242dup, NG_028289.1:g.201445_201451del, NG_028289.1:g.201446_201451del, NG_028289.1:g.201447_201451del, NG_028289.1:g.201448_201451del, NG_028289.1:g.201449_201451del, NG_028289.1:g.201450_201451del, NG_028289.1:g.201451del, NG_028289.1:g.201451dup, NG_028289.1:g.201450_201451dup, NG_028289.1:g.201449_201451dup, NG_028289.1:g.201438_201451dup

Select item 149113048420.

rs1491130484 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 10:79093135 (GRCh38)
10:80852892 (GRCh37)
Canonical SPDI:: NC_000010.11:79093134:AA:
Gene:: ZMIZ1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.79093135_79093136del, NC_000010.10:g.80852892_80852893del, NG_028289.1:g.29101_29102del

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