Links from Gene
Items: 1 to 20 of 1000
1.
rs1491540589 has merged into rs61524217 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,AAA,AAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:41718830
(GRCh38)
7:41758428
(GRCh37)
- Canonical SPDI:
- NC_000007.14:41718820:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:41718820:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:41718820:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:41718820:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:41718820:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:41718820:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:41718820:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:41718820:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:41718820:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:41718820:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:41718820:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:41718820:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:41718820:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:41718820:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:41718820:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:41718820:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:41718820:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:41718820:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- INHBA-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
AAA=0.2171/1087
(1000Genomes)
- HGVS:
NC_000007.14:g.41718830_41718843del, NC_000007.14:g.41718833_41718843del, NC_000007.14:g.41718834_41718843del, NC_000007.14:g.41718837_41718843del, NC_000007.14:g.41718839_41718843del, NC_000007.14:g.41718840_41718843del, NC_000007.14:g.41718841_41718843del, NC_000007.14:g.41718842_41718843del, NC_000007.14:g.41718843del, NC_000007.14:g.41718843dup, NC_000007.14:g.41718842_41718843dup, NC_000007.14:g.41718841_41718843dup, NC_000007.14:g.41718840_41718843dup, NC_000007.14:g.41718839_41718843dup, NC_000007.14:g.41718837_41718843dup, NC_000007.14:g.41718836_41718843dup, NC_000007.14:g.41718835_41718843dup, NC_000007.14:g.41718821_41718843A[44]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.41758428_41758441del, NC_000007.13:g.41758431_41758441del, NC_000007.13:g.41758432_41758441del, NC_000007.13:g.41758435_41758441del, NC_000007.13:g.41758437_41758441del, NC_000007.13:g.41758438_41758441del, NC_000007.13:g.41758439_41758441del, NC_000007.13:g.41758440_41758441del, NC_000007.13:g.41758441del, NC_000007.13:g.41758441dup, NC_000007.13:g.41758440_41758441dup, NC_000007.13:g.41758439_41758441dup, NC_000007.13:g.41758438_41758441dup, NC_000007.13:g.41758437_41758441dup, NC_000007.13:g.41758435_41758441dup, NC_000007.13:g.41758434_41758441dup, NC_000007.13:g.41758433_41758441dup, NC_000007.13:g.41758419_41758441A[44]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
3.
rs1491401184 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 7:41768165
(GRCh38)
7:41807764
(GRCh37)
- Canonical SPDI:
- NC_000007.14:41768165::C
- Gene:
- INHBA-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000035/2
(GnomAD)
- HGVS:
4.
rs1491310689 has merged into rs60031309 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 7:41704622
(GRCh38)
7:41744220
(GRCh37)
- Canonical SPDI:
- NC_000007.14:41704611:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGT,NC_000007.14:41704611:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000007.14:41704611:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000007.14:41704611:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:41704611:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:41704611:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:41704611:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:41704611:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:41704611:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:41704611:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:41704611:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:41704611:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:41704611:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:41704611:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:41704611:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:41704611:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:41704611:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:41704611:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:41704611:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:41704611:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:41704611:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:41704611:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- INHBA (Varview), INHBA-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.4201/1619
(ALSPAC)
GT=0.4283/2145
(1000Genomes)
- HGVS:
NC_000007.14:g.41704612GT[5], NC_000007.14:g.41704612GT[9], NC_000007.14:g.41704612GT[10], NC_000007.14:g.41704612GT[11], NC_000007.14:g.41704612GT[12], NC_000007.14:g.41704612GT[13], NC_000007.14:g.41704612GT[14], NC_000007.14:g.41704612GT[15], NC_000007.14:g.41704612GT[16], NC_000007.14:g.41704612GT[17], NC_000007.14:g.41704612GT[18], NC_000007.14:g.41704612GT[19], NC_000007.14:g.41704612GT[20], NC_000007.14:g.41704612GT[21], NC_000007.14:g.41704612GT[22], NC_000007.14:g.41704612GT[24], NC_000007.14:g.41704612GT[25], NC_000007.14:g.41704612GT[26], NC_000007.14:g.41704612GT[27], NC_000007.14:g.41704612GT[28], NC_000007.14:g.41704612GT[29], NC_000007.14:g.41704612GT[32], NC_000007.13:g.41744210GT[5], NC_000007.13:g.41744210GT[9], NC_000007.13:g.41744210GT[10], NC_000007.13:g.41744210GT[11], NC_000007.13:g.41744210GT[12], NC_000007.13:g.41744210GT[13], NC_000007.13:g.41744210GT[14], NC_000007.13:g.41744210GT[15], NC_000007.13:g.41744210GT[16], NC_000007.13:g.41744210GT[17], NC_000007.13:g.41744210GT[18], NC_000007.13:g.41744210GT[19], NC_000007.13:g.41744210GT[20], NC_000007.13:g.41744210GT[21], NC_000007.13:g.41744210GT[22], NC_000007.13:g.41744210GT[24], NC_000007.13:g.41744210GT[25], NC_000007.13:g.41744210GT[26], NC_000007.13:g.41744210GT[27], NC_000007.13:g.41744210GT[28], NC_000007.13:g.41744210GT[29], NC_000007.13:g.41744210GT[32]
5.
rs1491208117 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 7:41704611
(GRCh38)
7:41744209
(GRCh37)
- Canonical SPDI:
- NC_000007.14:41704610:AG:
- Gene:
- INHBA (Varview), INHBA-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00021/6
(TOMMO)
- HGVS:
6.
rs1491168439 has merged into rs34687726 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,T,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:41768175
(GRCh38)
7:41807773
(GRCh37)
- Canonical SPDI:
- NC_000007.14:41768164:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:41768164:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:41768164:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:41768164:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:41768164:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:41768164:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:41768164:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:41768164:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:41768164:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:41768164:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:41768164:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:41768164:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:41768164:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:41768164:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:41768164:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:41768164:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:41768164:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:41768164:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- INHBA-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.41768175_41768184del, NC_000007.14:g.41768176_41768184del, NC_000007.14:g.41768178_41768184del, NC_000007.14:g.41768179_41768184del, NC_000007.14:g.41768181_41768184del, NC_000007.14:g.41768182_41768184del, NC_000007.14:g.41768183_41768184del, NC_000007.14:g.41768184del, NC_000007.14:g.41768184dup, NC_000007.14:g.41768183_41768184dup, NC_000007.14:g.41768182_41768184dup, NC_000007.14:g.41768180_41768184dup, NC_000007.14:g.41768175_41768184dup, NC_000007.14:g.41768174_41768184dup, NC_000007.14:g.41768173_41768184dup, NC_000007.14:g.41768172_41768184dup, NC_000007.14:g.41768165_41768184T[41]ATTTTTTTTTTT[2]T[14], NC_000007.14:g.41768184_41768185insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.41807773_41807782del, NC_000007.13:g.41807774_41807782del, NC_000007.13:g.41807776_41807782del, NC_000007.13:g.41807777_41807782del, NC_000007.13:g.41807779_41807782del, NC_000007.13:g.41807780_41807782del, NC_000007.13:g.41807781_41807782del, NC_000007.13:g.41807782del, NC_000007.13:g.41807782dup, NC_000007.13:g.41807781_41807782dup, NC_000007.13:g.41807780_41807782dup, NC_000007.13:g.41807778_41807782dup, NC_000007.13:g.41807773_41807782dup, NC_000007.13:g.41807772_41807782dup, NC_000007.13:g.41807771_41807782dup, NC_000007.13:g.41807770_41807782dup, NC_000007.13:g.41807763_41807782T[41]ATTTTTTTTTTT[2]T[14], NC_000007.13:g.41807782_41807783insTTTTTTTTTTTTTTTTTTTTTTTTTTT
7.
rs1491116678 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 7:41731096
(GRCh38)
7:41770694
(GRCh37)
- Canonical SPDI:
- NC_000007.14:41731095:TA:
- Gene:
- INHBA-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.001012/12
(
ALFA)
-=0.001877/248
(GnomAD)
-=0.015642/58
(TWINSUK)
-=0.021017/81
(ALSPAC)
- HGVS:
8.
rs1491088334 has merged into rs562768204 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 7:41710920
(GRCh38)
7:41750518
(GRCh37)
- Canonical SPDI:
- NC_000007.14:41710918:AAA:A
- Gene:
- INHBA-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000061/1
(
ALFA)
-=0.000101/14
(GnomAD)
- HGVS:
9.
rs1491049487 has merged into rs369499454 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:41747485
(GRCh38)
7:41787083
(GRCh37)
- Canonical SPDI:
- NC_000007.14:41747473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:41747473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:41747473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:41747473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:41747473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:41747473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:41747473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:41747473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:41747473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:41747473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:41747473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:41747473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:41747473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:41747473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:41747473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:41747473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:41747473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:41747473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:41747473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:41747473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:41747473:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- INHBA-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.41747485_41747493del, NC_000007.14:g.41747486_41747493del, NC_000007.14:g.41747487_41747493del, NC_000007.14:g.41747488_41747493del, NC_000007.14:g.41747489_41747493del, NC_000007.14:g.41747490_41747493del, NC_000007.14:g.41747491_41747493del, NC_000007.14:g.41747492_41747493del, NC_000007.14:g.41747493del, NC_000007.14:g.41747493dup, NC_000007.14:g.41747492_41747493dup, NC_000007.14:g.41747491_41747493dup, NC_000007.14:g.41747490_41747493dup, NC_000007.14:g.41747489_41747493dup, NC_000007.14:g.41747488_41747493dup, NC_000007.14:g.41747487_41747493dup, NC_000007.14:g.41747486_41747493dup, NC_000007.14:g.41747480_41747493dup, NC_000007.14:g.41747479_41747493dup, NC_000007.14:g.41747478_41747493dup, NC_000007.14:g.41747477_41747493dup, NC_000007.13:g.41787083_41787091del, NC_000007.13:g.41787084_41787091del, NC_000007.13:g.41787085_41787091del, NC_000007.13:g.41787086_41787091del, NC_000007.13:g.41787087_41787091del, NC_000007.13:g.41787088_41787091del, NC_000007.13:g.41787089_41787091del, NC_000007.13:g.41787090_41787091del, NC_000007.13:g.41787091del, NC_000007.13:g.41787091dup, NC_000007.13:g.41787090_41787091dup, NC_000007.13:g.41787089_41787091dup, NC_000007.13:g.41787088_41787091dup, NC_000007.13:g.41787087_41787091dup, NC_000007.13:g.41787086_41787091dup, NC_000007.13:g.41787085_41787091dup, NC_000007.13:g.41787084_41787091dup, NC_000007.13:g.41787078_41787091dup, NC_000007.13:g.41787077_41787091dup, NC_000007.13:g.41787076_41787091dup, NC_000007.13:g.41787075_41787091dup
10.
rs1491031509 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 7:41768183
(GRCh38)
7:41807782
(GRCh37)
- Canonical SPDI:
- NC_000007.14:41768183::C
- Gene:
- INHBA-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000169/2
(
ALFA)
C=0.000036/5
(GnomAD)
- HGVS:
11.
rs1491020918 has merged into rs11305286 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:41707593
(GRCh38)
7:41747191
(GRCh37)
- Canonical SPDI:
- NC_000007.14:41707580:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:41707580:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:41707580:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:41707580:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:41707580:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:41707580:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:41707580:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:41707580:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- INHBA-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0.0009/5
(
ALFA)
A=0.4736/2372
(1000Genomes)
- HGVS:
NC_000007.14:g.41707593_41707595del, NC_000007.14:g.41707594_41707595del, NC_000007.14:g.41707595del, NC_000007.14:g.41707595dup, NC_000007.14:g.41707594_41707595dup, NC_000007.14:g.41707593_41707595dup, NC_000007.14:g.41707591_41707595dup, NC_000007.14:g.41707586_41707595dup, NC_000007.13:g.41747191_41747193del, NC_000007.13:g.41747192_41747193del, NC_000007.13:g.41747193del, NC_000007.13:g.41747193dup, NC_000007.13:g.41747192_41747193dup, NC_000007.13:g.41747191_41747193dup, NC_000007.13:g.41747189_41747193dup, NC_000007.13:g.41747184_41747193dup
12.
rs1490917648 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:41761452
(GRCh38)
7:41801050
(GRCh37)
- Canonical SPDI:
- NC_000007.14:41761451:T:C
- Gene:
- INHBA-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00002/1
(GnomAD)
- HGVS:
13.
rs1490827893 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:41714861
(GRCh38)
7:41754459
(GRCh37)
- Canonical SPDI:
- NC_000007.14:41714860:C:T
- Gene:
- INHBA-AS1 (Varview)
- Functional Consequence:
- genic_downstream_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:
14.
rs1490691977 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:41729889
(GRCh38)
7:41769487
(GRCh37)
- Canonical SPDI:
- NC_000007.14:41729888:C:T
- Gene:
- INHBA-AS1 (Varview)
- Functional Consequence:
- genic_downstream_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:
15.
rs1490678241 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:41693247
(GRCh38)
7:41732845
(GRCh37)
- Canonical SPDI:
- NC_000007.14:41693246:C:T
- Gene:
- INHBA (Varview), INHBA-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490620488 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:41760248
(GRCh38)
7:41799846
(GRCh37)
- Canonical SPDI:
- NC_000007.14:41760247:C:T
- Gene:
- INHBA-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490591430 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 7:41708188
(GRCh38)
7:41747786
(GRCh37)
- Canonical SPDI:
- NC_000007.14:41708187:G:A,NC_000007.14:41708187:G:C
- Gene:
- INHBA-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490574874 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:41761369
(GRCh38)
7:41800967
(GRCh37)
- Canonical SPDI:
- NC_000007.14:41761368:G:A
- Gene:
- INHBA-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,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:
20.
rs1490496857 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:41725625
(GRCh38)
7:41765223
(GRCh37)
- Canonical SPDI:
- NC_000007.14:41725624:G:A
- Gene:
- INHBA-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
- HGVS: