Links from Gene
Items: 1 to 20 of 3468
1.
rs1491574157 has merged into rs34047247 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACA>-,CA,CACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA
[Show Flanks]
- Chromosome:
- 7:124792068
(GRCh38)
7:124432122
(GRCh37)
- Canonical SPDI:
- NC_000007.14:124792052:ACACACACACACACACACACA:ACACACACACACACA,NC_000007.14:124792052:ACACACACACACACACACACA:ACACACACACACACACA,NC_000007.14:124792052:ACACACACACACACACACACA:ACACACACACACACACACA,NC_000007.14:124792052:ACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000007.14:124792052:ACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000007.14:124792052:ACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000007.14:124792052:ACACACACACACACACACACA:ACACACACACACACACACACACACACACA
- Gene:
- C7orf77 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACACA=0./0
(
ALFA)
AC=0.16593/831
(1000Genomes)
AC=0.19159/41
(Vietnamese)
- HGVS:
NC_000007.14:g.124792054CA[7], NC_000007.14:g.124792054CA[8], NC_000007.14:g.124792054CA[9], NC_000007.14:g.124792054CA[11], NC_000007.14:g.124792054CA[12], NC_000007.14:g.124792054CA[13], NC_000007.14:g.124792054CA[14], NC_000007.13:g.124432108CA[7], NC_000007.13:g.124432108CA[8], NC_000007.13:g.124432108CA[9], NC_000007.13:g.124432108CA[11], NC_000007.13:g.124432108CA[12], NC_000007.13:g.124432108CA[13], NC_000007.13:g.124432108CA[14]
2.
rs1491530623 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 7:124787154
(GRCh38)
7:124427209
(GRCh37)
- Canonical SPDI:
- NC_000007.14:124787154::A
- Gene:
- C7orf77 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
3.
rs1491526270 has merged into rs763182886 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:124784850
(GRCh38)
7:124424904
(GRCh37)
- Canonical SPDI:
- NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:124784842:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- C7orf77 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
TTTTTTTTTTTTTTT=0./0
(GENOME_DK)
- HGVS:
NC_000007.14:g.124784850_124784876del, NC_000007.14:g.124784853_124784876del, NC_000007.14:g.124784854_124784876del, NC_000007.14:g.124784855_124784876del, NC_000007.14:g.124784856_124784876del, NC_000007.14:g.124784857_124784876del, NC_000007.14:g.124784858_124784876del, NC_000007.14:g.124784859_124784876del, NC_000007.14:g.124784860_124784876del, NC_000007.14:g.124784861_124784876del, NC_000007.14:g.124784862_124784876del, NC_000007.14:g.124784863_124784876del, NC_000007.14:g.124784864_124784876del, NC_000007.14:g.124784865_124784876del, NC_000007.14:g.124784866_124784876del, NC_000007.14:g.124784867_124784876del, NC_000007.14:g.124784868_124784876del, NC_000007.14:g.124784869_124784876del, NC_000007.14:g.124784870_124784876del, NC_000007.14:g.124784871_124784876del, NC_000007.14:g.124784872_124784876del, NC_000007.14:g.124784873_124784876del, NC_000007.14:g.124784874_124784876del, NC_000007.14:g.124784875_124784876del, NC_000007.14:g.124784876del, NC_000007.14:g.124784876dup, NC_000007.14:g.124784875_124784876dup, NC_000007.14:g.124784874_124784876dup, NC_000007.14:g.124784873_124784876dup, NC_000007.14:g.124784872_124784876dup, NC_000007.14:g.124784871_124784876dup, NC_000007.14:g.124784870_124784876dup, NC_000007.14:g.124784867_124784876dup, NC_000007.14:g.124784866_124784876dup, NC_000007.14:g.124784864_124784876dup, NC_000007.14:g.124784863_124784876dup, NC_000007.14:g.124784861_124784876dup, NC_000007.14:g.124784858_124784876dup, NC_000007.14:g.124784857_124784876dup, NC_000007.14:g.124784856_124784876dup, NC_000007.14:g.124784855_124784876dup, NC_000007.14:g.124784854_124784876dup, NC_000007.14:g.124784853_124784876dup, NC_000007.14:g.124784852_124784876dup, NC_000007.14:g.124784851_124784876dup, NC_000007.14:g.124784850_124784876dup, NC_000007.14:g.124784849_124784876dup, NC_000007.14:g.124784848_124784876dup, NC_000007.14:g.124784847_124784876dup, NC_000007.14:g.124784846_124784876dup, NC_000007.14:g.124784845_124784876dup, NC_000007.14:g.124784844_124784876dup, NC_000007.14:g.124784843_124784876dup, NC_000007.14:g.124784876_124784877insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.124784876_124784877insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.124784876_124784877insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.124784876_124784877insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.124784876_124784877insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.124424904_124424930del, NC_000007.13:g.124424907_124424930del, NC_000007.13:g.124424908_124424930del, NC_000007.13:g.124424909_124424930del, NC_000007.13:g.124424910_124424930del, NC_000007.13:g.124424911_124424930del, NC_000007.13:g.124424912_124424930del, NC_000007.13:g.124424913_124424930del, NC_000007.13:g.124424914_124424930del, NC_000007.13:g.124424915_124424930del, NC_000007.13:g.124424916_124424930del, NC_000007.13:g.124424917_124424930del, NC_000007.13:g.124424918_124424930del, NC_000007.13:g.124424919_124424930del, NC_000007.13:g.124424920_124424930del, NC_000007.13:g.124424921_124424930del, NC_000007.13:g.124424922_124424930del, NC_000007.13:g.124424923_124424930del, NC_000007.13:g.124424924_124424930del, NC_000007.13:g.124424925_124424930del, NC_000007.13:g.124424926_124424930del, NC_000007.13:g.124424927_124424930del, NC_000007.13:g.124424928_124424930del, NC_000007.13:g.124424929_124424930del, NC_000007.13:g.124424930del, NC_000007.13:g.124424930dup, NC_000007.13:g.124424929_124424930dup, NC_000007.13:g.124424928_124424930dup, NC_000007.13:g.124424927_124424930dup, NC_000007.13:g.124424926_124424930dup, NC_000007.13:g.124424925_124424930dup, NC_000007.13:g.124424924_124424930dup, NC_000007.13:g.124424921_124424930dup, NC_000007.13:g.124424920_124424930dup, NC_000007.13:g.124424918_124424930dup, NC_000007.13:g.124424917_124424930dup, NC_000007.13:g.124424915_124424930dup, NC_000007.13:g.124424912_124424930dup, NC_000007.13:g.124424911_124424930dup, NC_000007.13:g.124424910_124424930dup, NC_000007.13:g.124424909_124424930dup, NC_000007.13:g.124424908_124424930dup, NC_000007.13:g.124424907_124424930dup, NC_000007.13:g.124424906_124424930dup, NC_000007.13:g.124424905_124424930dup, NC_000007.13:g.124424904_124424930dup, NC_000007.13:g.124424903_124424930dup, NC_000007.13:g.124424902_124424930dup, NC_000007.13:g.124424901_124424930dup, NC_000007.13:g.124424900_124424930dup, NC_000007.13:g.124424899_124424930dup, NC_000007.13:g.124424898_124424930dup, NC_000007.13:g.124424897_124424930dup, NC_000007.13:g.124424930_124424931insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.124424930_124424931insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.124424930_124424931insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.124424930_124424931insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.124424930_124424931insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1491106504 has merged into rs10718256 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT
[Show Flanks]
- Chromosome:
- 7:124787163
(GRCh38)
7:124427217
(GRCh37)
- Canonical SPDI:
- NC_000007.14:124787153:TTTTTTTTTTT:TTTTTTTTT,NC_000007.14:124787153:TTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:124787153:TTTTTTTTTTT:TTTTTTTTTTTT
- Gene:
- C7orf77 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.279396/1036
(TWINSUK)
-=0.282823/1090
(ALSPAC)
-=0.288339/1444
(1000Genomes)
-=0.298597/298
(GoNL)
-=0.3/180
(NorthernSweden)
-=0.302402/554
(Korea1K)
-=0.321924/85210
(TOPMED)
-=0.375/15
(GENOME_DK)
- HGVS:
5.
rs1491085124 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GA
[Show Flanks]
- Chromosome:
- 7:124788395
(GRCh38)
7:124428450
(GRCh37)
- Canonical SPDI:
- NC_000007.14:124788395:GA:GAGA
- Gene:
- C7orf77 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGA=0./0
(
ALFA)
GA=0.000004/1
(TOPMED)
GA=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490693887 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:124779882
(GRCh38)
7:124419936
(GRCh37)
- Canonical SPDI:
- NC_000007.14:124779881:C:T
- Gene:
- C7orf77 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000084/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490663431 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 7:124783483
(GRCh38)
7:124423537
(GRCh37)
- Canonical SPDI:
- NC_000007.14:124783482:A:C
- Gene:
- C7orf77 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
9.
rs1490077851 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:124787107
(GRCh38)
7:124427161
(GRCh37)
- Canonical SPDI:
- NC_000007.14:124787106:C:T
- Gene:
- C7orf77 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
10.
rs1490031159 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 7:124788045
(GRCh38)
7:124428099
(GRCh37)
- Canonical SPDI:
- NC_000007.14:124788044:T:G
- Gene:
- C7orf77 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1489881931 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 7:124779365
(GRCh38)
7:124419419
(GRCh37)
- Canonical SPDI:
- NC_000007.14:124779364:T:A
- Gene:
- C7orf77 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/2
(GnomAD)
- HGVS:
12.
rs1489851813 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:124780233
(GRCh38)
7:124420287
(GRCh37)
- Canonical SPDI:
- NC_000007.14:124780232:C:T
- Gene:
- C7orf77 (Varview)
- Functional Consequence:
- 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:
13.
rs1489845754 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 7:124784485
(GRCh38)
7:124424539
(GRCh37)
- Canonical SPDI:
- NC_000007.14:124784484:G:C
- Gene:
- C7orf77 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000224/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
14.
rs1489795395 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:124781517
(GRCh38)
7:124421571
(GRCh37)
- Canonical SPDI:
- NC_000007.14:124781516:A:G
- Gene:
- C7orf77 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
15.
rs1489712406 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:124786646
(GRCh38)
7:124426700
(GRCh37)
- Canonical SPDI:
- NC_000007.14:124786645:G:A
- Gene:
- C7orf77 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
16.
rs1489574699 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 7:124787489
(GRCh38)
7:124427543
(GRCh37)
- Canonical SPDI:
- NC_000007.14:124787488:G:A,NC_000007.14:124787488:G:T
- Gene:
- C7orf77 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
17.
rs1489447877 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:124790445
(GRCh38)
7:124430499
(GRCh37)
- Canonical SPDI:
- NC_000007.14:124790444:T:C
- Gene:
- C7orf77 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1489354014 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:124791549
(GRCh38)
7:124431603
(GRCh37)
- Canonical SPDI:
- NC_000007.14:124791548:A:G
- Gene:
- C7orf77 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1489314479 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:124778335
(GRCh38)
7:124418389
(GRCh37)
- Canonical SPDI:
- NC_000007.14:124778334:G:T
- Gene:
- C7orf77 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
20.
rs1489296096 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 7:124778710
(GRCh38)
7:124418764
(GRCh37)
- Canonical SPDI:
- NC_000007.14:124778709:A:
- Gene:
- C7orf77 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000019/5
(TOPMED)
- HGVS: