Links from Gene
Items: 1 to 20 of 16281
1.
rs1491555237 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 19:9351267
(GRCh38)
19:9461943
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9351266:TG:
- Gene:
- ZNF559-ZNF177 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00017/2
(
ALFA)
-=0.00015/2
(TOMMO)
- HGVS:
2.
rs1491553020 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 19:9377005
(GRCh38)
19:9487681
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9377000:TCTCTC:TCTC
- Gene:
- ZNF177 (Varview), ZNF559-ZNF177 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTC=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000021/3
(GnomAD)
-=0.000035/1
(TOMMO)
-=0.000546/1
(Korea1K)
- HGVS:
4.
rs1491460603 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 19:9366287
(GRCh38)
19:9476963
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9366286:CT:
- Gene:
- ZNF177 (Varview), ZNF559-ZNF177 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
5.
rs1491436953 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 19:9372540
(GRCh38)
19:9483216
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9372539:CT:
- Gene:
- ZNF177 (Varview), ZNF559-ZNF177 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000008/1
(GnomAD)
- HGVS:
6.
rs1491433418 has merged into rs904074002 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTGTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:9328358
(GRCh38)
19:9439034
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9328348:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF559 (Varview), ZNF559-ZNF177 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.9328358_9328372del, NC_000019.10:g.9328359_9328372del, NC_000019.10:g.9328360_9328372del, NC_000019.10:g.9328361_9328372del, NC_000019.10:g.9328362_9328372del, NC_000019.10:g.9328364_9328372del, NC_000019.10:g.9328365_9328372del, NC_000019.10:g.9328366_9328372del, NC_000019.10:g.9328367_9328372del, NC_000019.10:g.9328368_9328372del, NC_000019.10:g.9328369_9328372del, NC_000019.10:g.9328370_9328372del, NC_000019.10:g.9328371_9328372del, NC_000019.10:g.9328372del, NC_000019.10:g.9328372dup, NC_000019.10:g.9328371_9328372dup, NC_000019.10:g.9328370_9328372dup, NC_000019.10:g.9328369_9328372dup, NC_000019.10:g.9328349_9328372T[28]GT[2]TGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.10:g.9328368_9328372dup, NC_000019.10:g.9328367_9328372dup, NC_000019.10:g.9328366_9328372dup, NC_000019.10:g.9328365_9328372dup, NC_000019.10:g.9328364_9328372dup, NC_000019.10:g.9328363_9328372dup, NC_000019.10:g.9328362_9328372dup, NC_000019.10:g.9328361_9328372dup, NC_000019.10:g.9328360_9328372dup, NC_000019.10:g.9328372_9328373insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.9439034_9439048del, NC_000019.9:g.9439035_9439048del, NC_000019.9:g.9439036_9439048del, NC_000019.9:g.9439037_9439048del, NC_000019.9:g.9439038_9439048del, NC_000019.9:g.9439040_9439048del, NC_000019.9:g.9439041_9439048del, NC_000019.9:g.9439042_9439048del, NC_000019.9:g.9439043_9439048del, NC_000019.9:g.9439044_9439048del, NC_000019.9:g.9439045_9439048del, NC_000019.9:g.9439046_9439048del, NC_000019.9:g.9439047_9439048del, NC_000019.9:g.9439048del, NC_000019.9:g.9439048dup, NC_000019.9:g.9439047_9439048dup, NC_000019.9:g.9439046_9439048dup, NC_000019.9:g.9439045_9439048dup, NC_000019.9:g.9439025_9439048T[28]GT[2]TGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000019.9:g.9439044_9439048dup, NC_000019.9:g.9439043_9439048dup, NC_000019.9:g.9439042_9439048dup, NC_000019.9:g.9439041_9439048dup, NC_000019.9:g.9439040_9439048dup, NC_000019.9:g.9439039_9439048dup, NC_000019.9:g.9439038_9439048dup, NC_000019.9:g.9439037_9439048dup, NC_000019.9:g.9439036_9439048dup, NC_000019.9:g.9439048_9439049insTTTTTTTTTTTTTTTTTTTTTTTTTT
7.
rs1491377555 has merged into rs552808679 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:9356943
(GRCh38)
19:9467619
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:9356929:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF559-ZNF177 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.03674/184
(1000Genomes)
TT=0.375/15
(GENOME_DK)
- HGVS:
NC_000019.10:g.9356943_9356953del, NC_000019.10:g.9356944_9356953del, NC_000019.10:g.9356945_9356953del, NC_000019.10:g.9356946_9356953del, NC_000019.10:g.9356947_9356953del, NC_000019.10:g.9356948_9356953del, NC_000019.10:g.9356949_9356953del, NC_000019.10:g.9356950_9356953del, NC_000019.10:g.9356951_9356953del, NC_000019.10:g.9356952_9356953del, NC_000019.10:g.9356953del, NC_000019.10:g.9356953dup, NC_000019.10:g.9356952_9356953dup, NC_000019.10:g.9356951_9356953dup, NC_000019.10:g.9356950_9356953dup, NC_000019.10:g.9356949_9356953dup, NC_000019.10:g.9356948_9356953dup, NC_000019.10:g.9356947_9356953dup, NC_000019.10:g.9356946_9356953dup, NC_000019.10:g.9356945_9356953dup, NC_000019.10:g.9356944_9356953dup, NC_000019.10:g.9356931_9356953dup, NC_000019.10:g.9356953_9356954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.9356953_9356954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.9356953_9356954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.9356953_9356954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.9356953_9356954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.9356953_9356954insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.9467619_9467629del, NC_000019.9:g.9467620_9467629del, NC_000019.9:g.9467621_9467629del, NC_000019.9:g.9467622_9467629del, NC_000019.9:g.9467623_9467629del, NC_000019.9:g.9467624_9467629del, NC_000019.9:g.9467625_9467629del, NC_000019.9:g.9467626_9467629del, NC_000019.9:g.9467627_9467629del, NC_000019.9:g.9467628_9467629del, NC_000019.9:g.9467629del, NC_000019.9:g.9467629dup, NC_000019.9:g.9467628_9467629dup, NC_000019.9:g.9467627_9467629dup, NC_000019.9:g.9467626_9467629dup, NC_000019.9:g.9467625_9467629dup, NC_000019.9:g.9467624_9467629dup, NC_000019.9:g.9467623_9467629dup, NC_000019.9:g.9467622_9467629dup, NC_000019.9:g.9467621_9467629dup, NC_000019.9:g.9467620_9467629dup, NC_000019.9:g.9467607_9467629dup, NC_000019.9:g.9467629_9467630insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.9467629_9467630insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.9467629_9467630insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.9467629_9467630insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.9467629_9467630insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.9467629_9467630insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
10.
rs1491276693 has merged into rs35775585 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:9325797
(GRCh38)
19:9436473
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9325786:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:9325786:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:9325786:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:9325786:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:9325786:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:9325786:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:9325786:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:9325786:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:9325786:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:9325786:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9325786:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF559 (Varview), ZNF559-ZNF177 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
AA=0.2774/1389
(1000Genomes)
- HGVS:
NC_000019.10:g.9325797_9325802del, NC_000019.10:g.9325798_9325802del, NC_000019.10:g.9325799_9325802del, NC_000019.10:g.9325800_9325802del, NC_000019.10:g.9325801_9325802del, NC_000019.10:g.9325802del, NC_000019.10:g.9325802dup, NC_000019.10:g.9325800_9325802dup, NC_000019.10:g.9325799_9325802dup, NC_000019.10:g.9325798_9325802dup, NC_000019.10:g.9325795_9325802dup, NC_000019.9:g.9436473_9436478del, NC_000019.9:g.9436474_9436478del, NC_000019.9:g.9436475_9436478del, NC_000019.9:g.9436476_9436478del, NC_000019.9:g.9436477_9436478del, NC_000019.9:g.9436478del, NC_000019.9:g.9436478dup, NC_000019.9:g.9436476_9436478dup, NC_000019.9:g.9436475_9436478dup, NC_000019.9:g.9436474_9436478dup, NC_000019.9:g.9436471_9436478dup
11.
rs1491275407 has merged into rs59300029 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:9335148
(GRCh38)
19:9445824
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9335135:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:9335135:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:9335135:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:9335135:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:9335135:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:9335135:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:9335135:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:9335135:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:9335135:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9335135:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9335135:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9335135:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:9335135:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF559 (Varview), ZNF559-ZNF177 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAA=0.000015/4
(TOPMED)
-=0.418367/246
(NorthernSweden)
AA=0.419529/2101
(1000Genomes)
- HGVS:
NC_000019.10:g.9335148_9335153del, NC_000019.10:g.9335149_9335153del, NC_000019.10:g.9335150_9335153del, NC_000019.10:g.9335151_9335153del, NC_000019.10:g.9335152_9335153del, NC_000019.10:g.9335153del, NC_000019.10:g.9335153dup, NC_000019.10:g.9335152_9335153dup, NC_000019.10:g.9335148_9335153dup, NC_000019.10:g.9335147_9335153dup, NC_000019.10:g.9335146_9335153dup, NC_000019.10:g.9335145_9335153dup, NC_000019.10:g.9335144_9335153dup, NC_000019.9:g.9445824_9445829del, NC_000019.9:g.9445825_9445829del, NC_000019.9:g.9445826_9445829del, NC_000019.9:g.9445827_9445829del, NC_000019.9:g.9445828_9445829del, NC_000019.9:g.9445829del, NC_000019.9:g.9445829dup, NC_000019.9:g.9445828_9445829dup, NC_000019.9:g.9445824_9445829dup, NC_000019.9:g.9445823_9445829dup, NC_000019.9:g.9445822_9445829dup, NC_000019.9:g.9445821_9445829dup, NC_000019.9:g.9445820_9445829dup
12.
rs1491272269 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 19:9340591
(GRCh38)
19:9451268
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9340591:G:GG
- Gene:
- ZNF559 (Varview), ZNF559-ZNF177 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.00028/9
(GnomAD)
- HGVS:
15.
rs1491234445 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 19:9342493
(GRCh38)
19:9453169
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9342489:CACAC:CAC
- Gene:
- ZNF559 (Varview), ZNF559-ZNF177 (Varview)
- Functional Consequence:
- intron_variant,frameshift_variant,3_prime_UTR_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CAC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
NC_000019.10:g.9342491AC[1], NC_000019.9:g.9453167AC[1], NM_032497.3:c.1042_1043del, NM_032497.2:c.1042_1043del, NM_001202407.3:c.916_917del, NM_001202407.2:c.916_917del, NM_001202407.1:c.916_917del, NM_001202412.2:c.*863AC[1], NM_001202412.1:c.*863AC[1], NM_001202409.2:c.*863AC[1], NM_001202409.1:c.*863AC[1], NM_001202411.2:c.*863AC[1], NM_001202411.1:c.*863AC[1], NM_001202410.2:c.*863AC[1], NM_001202410.1:c.*863AC[1], NM_001202408.1:c.*863AC[1], NM_001202406.1:c.1234_1235del, NP_115886.1:p.Thr348fs, NP_001189336.1:p.Thr306fs, NP_001189335.1:p.Thr412fs
16.
rs1491223567 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TTTAAG,TTTG,TTTTA,TTTTTTAAG
[Show Flanks]
- Chromosome:
- 19:9351267
(GRCh38)
19:9461944
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9351267::TTTAAG,NC_000019.10:9351267::TTTG,NC_000019.10:9351267::TTTTA,NC_000019.10:9351267::TTTTTTAAG
- Gene:
- ZNF559-ZNF177 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTG=0./0
(
ALFA)
TTTG=0.000023/3
(GnomAD)
TTTTA=0.000299/5
(TOMMO)
- HGVS:
18.
rs1491222188 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 19:9377001
(GRCh38)
19:9487678
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9377001:C:CC
- Gene:
- ZNF177 (Varview), ZNF559-ZNF177 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1491221151 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 19:9325786
(GRCh38)
19:9436462
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9325785:CA:
- Gene:
- ZNF559 (Varview), ZNF559-ZNF177 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00126/15
(
ALFA)
-=0.00216/39
(GnomAD)
- HGVS:
20.
rs1491196978 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 19:9342574
(GRCh38)
19:9453251
(GRCh37)
- Canonical SPDI:
- NC_000019.10:9342574:A:AA
- Gene:
- ZNF559 (Varview), ZNF559-ZNF177 (Varview)
- Functional Consequence:
- intron_variant,frameshift_variant,3_prime_UTR_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000019.10:g.9342575dup, NC_000019.9:g.9453251dup, NM_032497.3:c.1124dup, NM_032497.2:c.1124dup, NM_001202407.3:c.998dup, NM_001202407.2:c.998dup, NM_001202407.1:c.998dup, NM_001202412.2:c.*947dup, NM_001202412.1:c.*947dup, NM_001202409.2:c.*947dup, NM_001202409.1:c.*947dup, NM_001202411.2:c.*947dup, NM_001202411.1:c.*947dup, NM_001202410.2:c.*947dup, NM_001202410.1:c.*947dup, NM_001202408.1:c.*947dup, NM_001202406.1:c.1316dup, NP_115886.1:p.His375fs, NP_001189336.1:p.His333fs, NP_001189335.1:p.His439fs