SNP Links for Gene (Select 101927219) - SNP

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Select item 14915686711.

rs1491568671 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 20:44387668 (GRCh38)
20:43016308 (GRCh37)
Canonical SPDI:: NC_000020.11:44387666:GAG:G
Gene:: HNF4A (Varview), HNF4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00017/2 (ALFA)
HGVS:: NC_000020.11:g.44387668_44387669del, NC_000020.10:g.43016308_43016309del, NG_009818.1:g.36868_36869del

Select item 14915005462.

rs1491500546 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 20:44385057 (GRCh38)
20:43013697 (GRCh37)
Canonical SPDI:: NC_000020.11:44385056:AT:
Gene:: HNF4A (Varview), HNF4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000020.11:g.44385057_44385058del, NC_000020.10:g.43013697_43013698del, NG_009818.1:g.34257_34258del

Select item 14914932643.

rs1491493264 has merged into rs61103959 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:44378925 (GRCh38)
20:43007565 (GRCh37)
Canonical SPDI:: NC_000020.11:44378918:AAAAAAAAAAAAAAAA:AAAAAA,NC_000020.11:44378918:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:44378918:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:44378918:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:44378918:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:44378918:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:44378918:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:44378918:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:44378918:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:44378918:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:44378918:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: HNF4A (Varview), HNF4A-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AA=0.2119/1061 (1000Genomes)
HGVS:: NC_000020.11:g.44378925_44378934del, NC_000020.11:g.44378929_44378934del, NC_000020.11:g.44378930_44378934del, NC_000020.11:g.44378931_44378934del, NC_000020.11:g.44378932_44378934del, NC_000020.11:g.44378933_44378934del, NC_000020.11:g.44378934del, NC_000020.11:g.44378934dup, NC_000020.11:g.44378933_44378934dup, NC_000020.11:g.44378931_44378934dup, NC_000020.11:g.44378930_44378934dup, NC_000020.10:g.43007565_43007574del, NC_000020.10:g.43007569_43007574del, NC_000020.10:g.43007570_43007574del, NC_000020.10:g.43007571_43007574del, NC_000020.10:g.43007572_43007574del, NC_000020.10:g.43007573_43007574del, NC_000020.10:g.43007574del, NC_000020.10:g.43007574dup, NC_000020.10:g.43007573_43007574dup, NC_000020.10:g.43007571_43007574dup, NC_000020.10:g.43007570_43007574dup, NG_009818.1:g.28125_28134del, NG_009818.1:g.28129_28134del, NG_009818.1:g.28130_28134del, NG_009818.1:g.28131_28134del, NG_009818.1:g.28132_28134del, NG_009818.1:g.28133_28134del, NG_009818.1:g.28134del, NG_009818.1:g.28134dup, NG_009818.1:g.28133_28134dup, NG_009818.1:g.28131_28134dup, NG_009818.1:g.28130_28134dup

Select item 14914546944.

rs1491454694 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATTTTTT,ATTTTTTTTTTTTT,ATTTTTTTTTTTTTTTT,GTTTTTTTTTTTTTTTT,GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:44385057 (GRCh38)
20:43013698 (GRCh37)
Canonical SPDI:: NC_000020.11:44385057:T:TATTTTTT,NC_000020.11:44385057:T:TATTTTTTTTTTTTT,NC_000020.11:44385057:T:TATTTTTTTTTTTTTTTT,NC_000020.11:44385057:T:TGTTTTTTTTTTTTTTTT,NC_000020.11:44385057:T:TGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385057:T:TT,NC_000020.11:44385057:T:TTT,NC_000020.11:44385057:T:TTTT,NC_000020.11:44385057:T:TTTTT,NC_000020.11:44385057:T:TTTTTT,NC_000020.11:44385057:T:TTTTTTT,NC_000020.11:44385057:T:TTTTTTTT,NC_000020.11:44385057:T:TTTTTTTTT,NC_000020.11:44385057:T:TTTTTTTTTT,NC_000020.11:44385057:T:TTTTTTTTTTT,NC_000020.11:44385057:T:TTTTTTTTTTTT,NC_000020.11:44385057:T:TTTTTTTTTTTTT,NC_000020.11:44385057:T:TTTTTTTTTTTTTT,NC_000020.11:44385057:T:TTTTTTTTTTTTTTT,NC_000020.11:44385057:T:TTTTTTTTTTTTTTTT,NC_000020.11:44385057:T:TTTTTTTTTTTTTTTTT,NC_000020.11:44385057:T:TTTTTTTTTTTTTTTTTT,NC_000020.11:44385057:T:TTTTTTTTTTTTTTTTTTT,NC_000020.11:44385057:T:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385057:T:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385057:T:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385057:T:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385057:T:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385057:T:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385057:T:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385057:T:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385057:T:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385057:T:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: HNF4A (Varview), HNF4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
TTTTTTTTTTT=0.00058/1 (Korea1K)
HGVS:: NC_000020.11:g.44385058_44385059insATTTTTT, NC_000020.11:g.44385058_44385059insATTTTTTTTTTTTT, NC_000020.11:g.44385058_44385059insATTTTTTTTTTTTTTTT, NC_000020.11:g.44385058_44385059insGTTTTTTTTTTTTTTTT, NC_000020.11:g.44385058_44385059insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.44385058dup, NC_000020.11:g.44385058_44385059insTT, NC_000020.11:g.44385058_44385059insTTT, NC_000020.11:g.44385058_44385059insTTTT, NC_000020.11:g.44385058_44385059insTTTTT, NC_000020.11:g.44385058_44385059insTTTTTT, NC_000020.11:g.44385058_44385059insTTTTTTT, NC_000020.11:g.44385058_44385059insTTTTTTTT, NC_000020.11:g.44385058_44385059insTTTTTTTTT, NC_000020.11:g.44385058_44385059insTTTTTTTTTT, NC_000020.11:g.44385058_44385059insTTTTTTTTTTT, NC_000020.11:g.44385058_44385059insTTTTTTTTTTTT, NC_000020.11:g.44385058_44385059insTTTTTTTTTTTTT, NC_000020.11:g.44385058_44385059insTTTTTTTTTTTTTT, NC_000020.11:g.44385058_44385059insTTTTTTTTTTTTTTT, NC_000020.11:g.44385058_44385059insTTTTTTTTTTTTTTTT, NC_000020.11:g.44385058_44385059insTTTTTTTTTTTTTTTTT, NC_000020.11:g.44385058_44385059insTTTTTTTTTTTTTTTTTT, NC_000020.11:g.44385058_44385059insTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.44385058_44385059insTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.44385058_44385059insTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.44385058_44385059insTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.44385058_44385059insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.44385058_44385059insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.44385058_44385059insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.44385058_44385059insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.44385058_44385059insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.44385058_44385059insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013698_43013699insATTTTTT, NC_000020.10:g.43013698_43013699insATTTTTTTTTTTTT, NC_000020.10:g.43013698_43013699insATTTTTTTTTTTTTTTT, NC_000020.10:g.43013698_43013699insGTTTTTTTTTTTTTTTT, NC_000020.10:g.43013698_43013699insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013698dup, NC_000020.10:g.43013698_43013699insTT, NC_000020.10:g.43013698_43013699insTTT, NC_000020.10:g.43013698_43013699insTTTT, NC_000020.10:g.43013698_43013699insTTTTT, NC_000020.10:g.43013698_43013699insTTTTTT, NC_000020.10:g.43013698_43013699insTTTTTTT, NC_000020.10:g.43013698_43013699insTTTTTTTT, NC_000020.10:g.43013698_43013699insTTTTTTTTT, NC_000020.10:g.43013698_43013699insTTTTTTTTTT, NC_000020.10:g.43013698_43013699insTTTTTTTTTTT, NC_000020.10:g.43013698_43013699insTTTTTTTTTTTT, NC_000020.10:g.43013698_43013699insTTTTTTTTTTTTT, NC_000020.10:g.43013698_43013699insTTTTTTTTTTTTTT, NC_000020.10:g.43013698_43013699insTTTTTTTTTTTTTTT, NC_000020.10:g.43013698_43013699insTTTTTTTTTTTTTTTT, NC_000020.10:g.43013698_43013699insTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013698_43013699insTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013698_43013699insTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013698_43013699insTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013698_43013699insTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013698_43013699insTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013698_43013699insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013698_43013699insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013698_43013699insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013698_43013699insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013698_43013699insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013698_43013699insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34258_34259insATTTTTT, NG_009818.1:g.34258_34259insATTTTTTTTTTTTT, NG_009818.1:g.34258_34259insATTTTTTTTTTTTTTTT, NG_009818.1:g.34258_34259insGTTTTTTTTTTTTTTTT, NG_009818.1:g.34258_34259insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34258dup, NG_009818.1:g.34258_34259insTT, NG_009818.1:g.34258_34259insTTT, NG_009818.1:g.34258_34259insTTTT, NG_009818.1:g.34258_34259insTTTTT, NG_009818.1:g.34258_34259insTTTTTT, NG_009818.1:g.34258_34259insTTTTTTT, NG_009818.1:g.34258_34259insTTTTTTTT, NG_009818.1:g.34258_34259insTTTTTTTTT, NG_009818.1:g.34258_34259insTTTTTTTTTT, NG_009818.1:g.34258_34259insTTTTTTTTTTT, NG_009818.1:g.34258_34259insTTTTTTTTTTTT, NG_009818.1:g.34258_34259insTTTTTTTTTTTTT, NG_009818.1:g.34258_34259insTTTTTTTTTTTTTT, NG_009818.1:g.34258_34259insTTTTTTTTTTTTTTT, NG_009818.1:g.34258_34259insTTTTTTTTTTTTTTTT, NG_009818.1:g.34258_34259insTTTTTTTTTTTTTTTTT, NG_009818.1:g.34258_34259insTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34258_34259insTTTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34258_34259insTTTTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34258_34259insTTTTTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34258_34259insTTTTTTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34258_34259insTTTTTTTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34258_34259insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34258_34259insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34258_34259insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34258_34259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34258_34259insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914452115.

rs1491445211 has merged into rs1212441244 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGG>-,G,GG,GGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 20:44387664 (GRCh38)
20:43016304 (GRCh37)
Canonical SPDI:: NC_000020.11:44387655:GGGGGGGGGGGG:GGGGGGGG,NC_000020.11:44387655:GGGGGGGGGGGG:GGGGGGGGG,NC_000020.11:44387655:GGGGGGGGGGGG:GGGGGGGGGG,NC_000020.11:44387655:GGGGGGGGGGGG:GGGGGGGGGGG,NC_000020.11:44387655:GGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000020.11:44387655:GGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000020.11:44387655:GGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000020.11:44387655:GGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000020.11:44387655:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000020.11:44387655:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000020.11:44387655:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000020.11:44387655:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG,NC_000020.11:44387655:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG,NC_000020.11:44387655:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG,NC_000020.11:44387655:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGG
Gene:: HNF4A (Varview), HNF4A-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
-=0.0043/2 (NorthernSweden)
HGVS:: NC_000020.11:g.44387664_44387667del, NC_000020.11:g.44387665_44387667del, NC_000020.11:g.44387666_44387667del, NC_000020.11:g.44387667del, NC_000020.11:g.44387667dup, NC_000020.11:g.44387666_44387667dup, NC_000020.11:g.44387665_44387667dup, NC_000020.11:g.44387664_44387667dup, NC_000020.11:g.44387663_44387667dup, NC_000020.11:g.44387662_44387667dup, NC_000020.11:g.44387661_44387667dup, NC_000020.11:g.44387660_44387667dup, NC_000020.11:g.44387659_44387667dup, NC_000020.11:g.44387658_44387667dup, NC_000020.11:g.44387667_44387668insGGGGGGGGGGGGG, NC_000020.10:g.43016304_43016307del, NC_000020.10:g.43016305_43016307del, NC_000020.10:g.43016306_43016307del, NC_000020.10:g.43016307del, NC_000020.10:g.43016307dup, NC_000020.10:g.43016306_43016307dup, NC_000020.10:g.43016305_43016307dup, NC_000020.10:g.43016304_43016307dup, NC_000020.10:g.43016303_43016307dup, NC_000020.10:g.43016302_43016307dup, NC_000020.10:g.43016301_43016307dup, NC_000020.10:g.43016300_43016307dup, NC_000020.10:g.43016299_43016307dup, NC_000020.10:g.43016298_43016307dup, NC_000020.10:g.43016307_43016308insGGGGGGGGGGGGG, NG_009818.1:g.36864_36867del, NG_009818.1:g.36865_36867del, NG_009818.1:g.36866_36867del, NG_009818.1:g.36867del, NG_009818.1:g.36867dup, NG_009818.1:g.36866_36867dup, NG_009818.1:g.36865_36867dup, NG_009818.1:g.36864_36867dup, NG_009818.1:g.36863_36867dup, NG_009818.1:g.36862_36867dup, NG_009818.1:g.36861_36867dup, NG_009818.1:g.36860_36867dup, NG_009818.1:g.36859_36867dup, NG_009818.1:g.36858_36867dup, NG_009818.1:g.36867_36868insGGGGGGGGGGGGG

Select item 14914215106.

rs1491421510 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 20:44386159 (GRCh38)
20:43014799 (GRCh37)
Canonical SPDI:: NC_000020.11:44386158:AT:
Gene:: HNF4A (Varview), HNF4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000020.11:g.44386159_44386160del, NC_000020.10:g.43014799_43014800del, NG_009818.1:g.35359_35360del

Select item 14914063607.

rs1491406360 has merged into rs33924202 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:44379739 (GRCh38)
20:43008379 (GRCh37)
Canonical SPDI:: NC_000020.11:44379730:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000020.11:44379730:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000020.11:44379730:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:44379730:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:44379730:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:44379730:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:44379730:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:44379730:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:44379730:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:44379730:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:44379730:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44379730:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44379730:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44379730:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44379730:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: HNF4A (Varview), HNF4A-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
TT=0.311502/1560 (1000Genomes)
HGVS:: NC_000020.11:g.44379739_44379751del, NC_000020.11:g.44379740_44379751del, NC_000020.11:g.44379744_44379751del, NC_000020.11:g.44379745_44379751del, NC_000020.11:g.44379746_44379751del, NC_000020.11:g.44379747_44379751del, NC_000020.11:g.44379748_44379751del, NC_000020.11:g.44379749_44379751del, NC_000020.11:g.44379750_44379751del, NC_000020.11:g.44379751del, NC_000020.11:g.44379751dup, NC_000020.11:g.44379750_44379751dup, NC_000020.11:g.44379749_44379751dup, NC_000020.11:g.44379748_44379751dup, NC_000020.11:g.44379746_44379751dup, NC_000020.10:g.43008379_43008391del, NC_000020.10:g.43008380_43008391del, NC_000020.10:g.43008384_43008391del, NC_000020.10:g.43008385_43008391del, NC_000020.10:g.43008386_43008391del, NC_000020.10:g.43008387_43008391del, NC_000020.10:g.43008388_43008391del, NC_000020.10:g.43008389_43008391del, NC_000020.10:g.43008390_43008391del, NC_000020.10:g.43008391del, NC_000020.10:g.43008391dup, NC_000020.10:g.43008390_43008391dup, NC_000020.10:g.43008389_43008391dup, NC_000020.10:g.43008388_43008391dup, NC_000020.10:g.43008386_43008391dup, NG_009818.1:g.28939_28951del, NG_009818.1:g.28940_28951del, NG_009818.1:g.28944_28951del, NG_009818.1:g.28945_28951del, NG_009818.1:g.28946_28951del, NG_009818.1:g.28947_28951del, NG_009818.1:g.28948_28951del, NG_009818.1:g.28949_28951del, NG_009818.1:g.28950_28951del, NG_009818.1:g.28951del, NG_009818.1:g.28951dup, NG_009818.1:g.28950_28951dup, NG_009818.1:g.28949_28951dup, NG_009818.1:g.28948_28951dup, NG_009818.1:g.28946_28951dup

Select item 14913358208.

rs1491335820 [Homo sapiens]

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

Select item 14911271039.

rs1491127103 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,T [Show Flanks]
Chromosome:: 20:44387656 (GRCh38)
20:43016297 (GRCh37)
Canonical SPDI:: NC_000020.11:44387656::C,NC_000020.11:44387656::T
Gene:: HNF4A (Varview), HNF4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.44387656_44387657insC, NC_000020.11:g.44387656_44387657insT, NC_000020.10:g.43016296_43016297insC, NC_000020.10:g.43016296_43016297insT, NG_009818.1:g.36856_36857insC, NG_009818.1:g.36856_36857insT

Select item 149111898410.

rs1491118984 has merged into rs775721024 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:44385069 (GRCh38)
20:43013709 (GRCh37)
Canonical SPDI:: NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44385059:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: HNF4A (Varview), HNF4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000020.11:g.44385069_44385087del, NC_000020.11:g.44385072_44385087del, NC_000020.11:g.44385073_44385087del, NC_000020.11:g.44385074_44385087del, NC_000020.11:g.44385075_44385087del, NC_000020.11:g.44385076_44385087del, NC_000020.11:g.44385077_44385087del, NC_000020.11:g.44385078_44385087del, NC_000020.11:g.44385079_44385087del, NC_000020.11:g.44385080_44385087del, NC_000020.11:g.44385081_44385087del, NC_000020.11:g.44385082_44385087del, NC_000020.11:g.44385083_44385087del, NC_000020.11:g.44385084_44385087del, NC_000020.11:g.44385085_44385087del, NC_000020.11:g.44385086_44385087del, NC_000020.11:g.44385087del, NC_000020.11:g.44385087dup, NC_000020.11:g.44385086_44385087dup, NC_000020.11:g.44385085_44385087dup, NC_000020.11:g.44385084_44385087dup, NC_000020.11:g.44385083_44385087dup, NC_000020.11:g.44385082_44385087dup, NC_000020.11:g.44385081_44385087dup, NC_000020.11:g.44385080_44385087dup, NC_000020.11:g.44385079_44385087dup, NC_000020.11:g.44385078_44385087dup, NC_000020.11:g.44385077_44385087dup, NC_000020.11:g.44385076_44385087dup, NC_000020.11:g.44385075_44385087dup, NC_000020.11:g.44385074_44385087dup, NC_000020.11:g.44385073_44385087dup, NC_000020.11:g.44385072_44385087dup, NC_000020.11:g.44385071_44385087dup, NC_000020.11:g.44385070_44385087dup, NC_000020.11:g.44385069_44385087dup, NC_000020.11:g.44385068_44385087dup, NC_000020.11:g.44385067_44385087dup, NC_000020.11:g.44385066_44385087dup, NC_000020.11:g.44385065_44385087dup, NC_000020.11:g.44385064_44385087dup, NC_000020.11:g.44385063_44385087dup, NC_000020.11:g.44385062_44385087dup, NC_000020.11:g.44385061_44385087dup, NC_000020.11:g.44385060_44385087dup, NC_000020.11:g.44385087_44385088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.44385087_44385088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.44385087_44385088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.44385087_44385088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.44385087_44385088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.44385087_44385088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.44385087_44385088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.44385087_44385088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.44385087_44385088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.44385087_44385088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.44385087_44385088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.44385087_44385088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.44385087_44385088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.44385087_44385088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.44385087_44385088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.44385087_44385088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.44385087_44385088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.44385087_44385088insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013709_43013727del, NC_000020.10:g.43013712_43013727del, NC_000020.10:g.43013713_43013727del, NC_000020.10:g.43013714_43013727del, NC_000020.10:g.43013715_43013727del, NC_000020.10:g.43013716_43013727del, NC_000020.10:g.43013717_43013727del, NC_000020.10:g.43013718_43013727del, NC_000020.10:g.43013719_43013727del, NC_000020.10:g.43013720_43013727del, NC_000020.10:g.43013721_43013727del, NC_000020.10:g.43013722_43013727del, NC_000020.10:g.43013723_43013727del, NC_000020.10:g.43013724_43013727del, NC_000020.10:g.43013725_43013727del, NC_000020.10:g.43013726_43013727del, NC_000020.10:g.43013727del, NC_000020.10:g.43013727dup, NC_000020.10:g.43013726_43013727dup, NC_000020.10:g.43013725_43013727dup, NC_000020.10:g.43013724_43013727dup, NC_000020.10:g.43013723_43013727dup, NC_000020.10:g.43013722_43013727dup, NC_000020.10:g.43013721_43013727dup, NC_000020.10:g.43013720_43013727dup, NC_000020.10:g.43013719_43013727dup, NC_000020.10:g.43013718_43013727dup, NC_000020.10:g.43013717_43013727dup, NC_000020.10:g.43013716_43013727dup, NC_000020.10:g.43013715_43013727dup, NC_000020.10:g.43013714_43013727dup, NC_000020.10:g.43013713_43013727dup, NC_000020.10:g.43013712_43013727dup, NC_000020.10:g.43013711_43013727dup, NC_000020.10:g.43013710_43013727dup, NC_000020.10:g.43013709_43013727dup, NC_000020.10:g.43013708_43013727dup, NC_000020.10:g.43013707_43013727dup, NC_000020.10:g.43013706_43013727dup, NC_000020.10:g.43013705_43013727dup, NC_000020.10:g.43013704_43013727dup, NC_000020.10:g.43013703_43013727dup, NC_000020.10:g.43013702_43013727dup, NC_000020.10:g.43013701_43013727dup, NC_000020.10:g.43013700_43013727dup, NC_000020.10:g.43013727_43013728insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013727_43013728insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013727_43013728insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013727_43013728insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013727_43013728insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013727_43013728insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013727_43013728insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013727_43013728insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013727_43013728insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013727_43013728insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013727_43013728insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013727_43013728insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013727_43013728insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013727_43013728insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013727_43013728insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013727_43013728insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013727_43013728insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.43013727_43013728insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34269_34287del, NG_009818.1:g.34272_34287del, NG_009818.1:g.34273_34287del, NG_009818.1:g.34274_34287del, NG_009818.1:g.34275_34287del, NG_009818.1:g.34276_34287del, NG_009818.1:g.34277_34287del, NG_009818.1:g.34278_34287del, NG_009818.1:g.34279_34287del, NG_009818.1:g.34280_34287del, NG_009818.1:g.34281_34287del, NG_009818.1:g.34282_34287del, NG_009818.1:g.34283_34287del, NG_009818.1:g.34284_34287del, NG_009818.1:g.34285_34287del, NG_009818.1:g.34286_34287del, NG_009818.1:g.34287del, NG_009818.1:g.34287dup, NG_009818.1:g.34286_34287dup, NG_009818.1:g.34285_34287dup, NG_009818.1:g.34284_34287dup, NG_009818.1:g.34283_34287dup, NG_009818.1:g.34282_34287dup, NG_009818.1:g.34281_34287dup, NG_009818.1:g.34280_34287dup, NG_009818.1:g.34279_34287dup, NG_009818.1:g.34278_34287dup, NG_009818.1:g.34277_34287dup, NG_009818.1:g.34276_34287dup, NG_009818.1:g.34275_34287dup, NG_009818.1:g.34274_34287dup, NG_009818.1:g.34273_34287dup, NG_009818.1:g.34272_34287dup, NG_009818.1:g.34271_34287dup, NG_009818.1:g.34270_34287dup, NG_009818.1:g.34269_34287dup, NG_009818.1:g.34268_34287dup, NG_009818.1:g.34267_34287dup, NG_009818.1:g.34266_34287dup, NG_009818.1:g.34265_34287dup, NG_009818.1:g.34264_34287dup, NG_009818.1:g.34263_34287dup, NG_009818.1:g.34262_34287dup, NG_009818.1:g.34261_34287dup, NG_009818.1:g.34260_34287dup, NG_009818.1:g.34287_34288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34287_34288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34287_34288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34287_34288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34287_34288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34287_34288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34287_34288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34287_34288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34287_34288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34287_34288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34287_34288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34287_34288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34287_34288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34287_34288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34287_34288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34287_34288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34287_34288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009818.1:g.34287_34288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149110077111.

rs1491100771 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 20:44387667 (GRCh38)
20:43016308 (GRCh37)
Canonical SPDI:: NC_000020.11:44387667:A:AA
Gene:: HNF4A (Varview), HNF4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.00128/82 (GnomAD)
HGVS:: NC_000020.11:g.44387668dup, NC_000020.10:g.43016308dup, NG_009818.1:g.36868dup

Select item 149100016412.

rs1491000164 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 20:44390110 (GRCh38)
20:43018750 (GRCh37)
Canonical SPDI:: NC_000020.11:44390109:G:
Gene:: HNF4A (Varview), HNF4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.44390110del, NC_000020.10:g.43018750del, NG_009818.1:g.39310del

Select item 149072286913.

rs1490722869 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:44378908 (GRCh38)
20:43007548 (GRCh37)
Canonical SPDI:: NC_000020.11:44378907:G:A
Gene:: HNF4A (Varview), HNF4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000020.11:g.44378908G>A, NC_000020.10:g.43007548G>A, NG_009818.1:g.28108G>A

Select item 149060287914.

rs1490602879 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:44382385 (GRCh38)
20:43011025 (GRCh37)
Canonical SPDI:: NC_000020.11:44382384:C:T
Gene:: HNF4A (Varview), HNF4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000020.11:g.44382385C>T, NC_000020.10:g.43011025C>T, NG_009818.1:g.31585C>T

Select item 149037921015.

rs1490379210 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:44388625 (GRCh38)
20:43017265 (GRCh37)
Canonical SPDI:: NC_000020.11:44388624:C:T
Gene:: HNF4A (Varview), HNF4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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_000020.11:g.44388625C>T, NC_000020.10:g.43017265C>T, NG_009818.1:g.37825C>T

Select item 149037316616.

rs1490373166 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:44392622 (GRCh38)
20:43021262 (GRCh37)
Canonical SPDI:: NC_000020.11:44392621:G:T
Gene:: HNF4A (Varview), HNF4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.44392622G>T, NC_000020.10:g.43021262G>T, NG_009818.1:g.41822G>T

Select item 149018138117.

rs1490181381 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 20:44393606 (GRCh38)
20:43022246 (GRCh37)
Canonical SPDI:: NC_000020.11:44393605:AAAAAA:AAAAA
Gene:: HNF4A (Varview), HNF4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.44393611del, NC_000020.10:g.43022251del, NG_009818.1:g.42811del

Select item 148987391318.

rs1489873913 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:44384697 (GRCh38)
20:43013337 (GRCh37)
Canonical SPDI:: NC_000020.11:44384696:C:T
Gene:: HNF4A (Varview), HNF4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.44384697C>T, NC_000020.10:g.43013337C>T, NG_009818.1:g.33897C>T

Select item 148963553419.

rs1489635534 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 20:44378124 (GRCh38)
20:43006764 (GRCh37)
Canonical SPDI:: NC_000020.11:44378121:AGAAG:AG
Gene:: HNF4A (Varview), HNF4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
-=0.000177/3 (TOMMO)
HGVS:: NC_000020.11:g.44378124_44378126del, NC_000020.10:g.43006764_43006766del, NG_009818.1:g.27324_27326del

Select item 148947994520.

rs1489479945 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:44391142 (GRCh38)
20:43019782 (GRCh37)
Canonical SPDI:: NC_000020.11:44391141:C:G,NC_000020.11:44391141:C:T
Gene:: HNF4A (Varview), HNF4A-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.0001/14 (GnomAD)
HGVS:: NC_000020.11:g.44391142C>G, NC_000020.11:g.44391142C>T, NC_000020.10:g.43019782C>G, NC_000020.10:g.43019782C>T, NG_009818.1:g.40342C>G, NG_009818.1:g.40342C>T

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