Links from Gene
Items: 1 to 20 of 7777
1.
rs1491534440 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 19:51972947
(GRCh38)
19:52476200
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51972946:CT:
- Gene:
- ZNF350 (Varview), ZNF350-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
2.
rs1491493931 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 19:51967890
(GRCh38)
19:52471144
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51967890:GGGG:GGGGG
- Gene:
- ZNF350 (Varview), ZNF350-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGG=0./0
(
ALFA)
G=0.000045/12
(TOPMED)
G=0.000071/10
(GnomAD)
- HGVS:
4.
rs1491416676 has merged into rs202054246 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:51975444
(GRCh38)
19:52478697
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:51975429:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF350 (Varview), ZNF350-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.0917/459
(1000Genomes)
- HGVS:
NC_000019.10:g.51975444_51975452del, NC_000019.10:g.51975445_51975452del, NC_000019.10:g.51975446_51975452del, NC_000019.10:g.51975447_51975452del, NC_000019.10:g.51975448_51975452del, NC_000019.10:g.51975449_51975452del, NC_000019.10:g.51975450_51975452del, NC_000019.10:g.51975451_51975452del, NC_000019.10:g.51975452del, NC_000019.10:g.51975452dup, NC_000019.10:g.51975451_51975452dup, NC_000019.10:g.51975450_51975452dup, NC_000019.10:g.51975449_51975452dup, NC_000019.10:g.51975448_51975452dup, NC_000019.10:g.51975447_51975452dup, NC_000019.10:g.51975446_51975452dup, NC_000019.10:g.51975445_51975452dup, NC_000019.10:g.51975444_51975452dup, NC_000019.10:g.51975443_51975452dup, NC_000019.10:g.51975442_51975452dup, NC_000019.10:g.51975452_51975453insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51975452_51975453insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51975452_51975453insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.51975452_51975453insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.52478697_52478705del, NC_000019.9:g.52478698_52478705del, NC_000019.9:g.52478699_52478705del, NC_000019.9:g.52478700_52478705del, NC_000019.9:g.52478701_52478705del, NC_000019.9:g.52478702_52478705del, NC_000019.9:g.52478703_52478705del, NC_000019.9:g.52478704_52478705del, NC_000019.9:g.52478705del, NC_000019.9:g.52478705dup, NC_000019.9:g.52478704_52478705dup, NC_000019.9:g.52478703_52478705dup, NC_000019.9:g.52478702_52478705dup, NC_000019.9:g.52478701_52478705dup, NC_000019.9:g.52478700_52478705dup, NC_000019.9:g.52478699_52478705dup, NC_000019.9:g.52478698_52478705dup, NC_000019.9:g.52478697_52478705dup, NC_000019.9:g.52478696_52478705dup, NC_000019.9:g.52478695_52478705dup, NC_000019.9:g.52478705_52478706insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.52478705_52478706insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.52478705_52478706insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.52478705_52478706insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
6.
rs1491156197 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 19:51956660
(GRCh38)
19:52459913
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51956659:CA:
- Gene:
- ZNF350-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00017/2
(
ALFA)
-=0.00021/6
(TOMMO)
- HGVS:
7.
rs1490947561 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:51953148
(GRCh38)
19:52456401
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51953147:A:G
- Gene:
- ZNF350-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000031/4
(GnomAD)
G=0.000156/1
(1000Genomes)
- HGVS:
8.
rs1490736323 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:51968117
(GRCh38)
19:52471370
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51968116:A:C
- Gene:
- ZNF350 (Varview), ZNF350-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000142/2
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
10.
rs1490565059 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:51963338
(GRCh38)
19:52466591
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51963337:A:G
- Gene:
- ZNF350-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490507877 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:51975927
(GRCh38)
19:52479180
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51975926:A:G
- Gene:
- ZNF350 (Varview), ZNF350-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
12.
rs1490481488 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:51960834
(GRCh38)
19:52464087
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51960833:G:A
- Gene:
- ZNF350-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
13.
rs1490455837 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 19:51976779
(GRCh38)
19:52480032
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51976778:C:A,NC_000019.10:51976778:C:G
- Gene:
- ZNF350 (Varview), ZNF350-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490292782 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:51980448
(GRCh38)
19:52483701
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51980447:T:G
- Gene:
- ZNF350 (Varview), ZNF350-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_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.
rs1490089019 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:51962089
(GRCh38)
19:52465342
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51962088:C:T
- Gene:
- ZNF350-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
16.
rs1490059746 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 19:51964190
(GRCh38)
19:52467443
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51964189:A:C,NC_000019.10:51964189:A:G
- Gene:
- ZNF350 (Varview), ZNF350-AS1 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1489948435 has merged into rs72177430 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:51966285
(GRCh38)
19:52469538
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51966281:TTTTTTTT:TTT,NC_000019.10:51966281:TTTTTTTT:TTTT,NC_000019.10:51966281:TTTTTTTT:TTTTTTT,NC_000019.10:51966281:TTTTTTTT:TTTTTTTTT,NC_000019.10:51966281:TTTTTTTT:TTTTTTTTTT,NC_000019.10:51966281:TTTTTTTT:TTTTTTTTTTT,NC_000019.10:51966281:TTTTTTTT:TTTTTTTTTTTT,NC_000019.10:51966281:TTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:51966281:TTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:51966281:TTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:51966281:TTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:51966281:TTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:51966281:TTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:51966281:TTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF350 (Varview), ZNF350-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
T=0.059498/109
(Korea1K)
T=0.062112/1041
(TOMMO)
T=0.067722/261
(ALSPAC)
T=0.075/3
(GENOME_DK)
T=0.07515/75
(GoNL)
T=0.078479/291
(TWINSUK)
T=0.123602/619
(1000Genomes)
- HGVS:
NC_000019.10:g.51966285_51966289del, NC_000019.10:g.51966286_51966289del, NC_000019.10:g.51966289del, NC_000019.10:g.51966289dup, NC_000019.10:g.51966288_51966289dup, NC_000019.10:g.51966287_51966289dup, NC_000019.10:g.51966286_51966289dup, NC_000019.10:g.51966284_51966289dup, NC_000019.10:g.51966282_51966289dup, NC_000019.10:g.51966289_51966290insTTTTTTTTT, NC_000019.10:g.51966289_51966290insTTTTTTTTTT, NC_000019.10:g.51966289_51966290insTTTTTTTTTTTTTTTT, NC_000019.10:g.51966289_51966290insTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.51966289_51966290insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.52469538_52469542del, NC_000019.9:g.52469539_52469542del, NC_000019.9:g.52469542del, NC_000019.9:g.52469542dup, NC_000019.9:g.52469541_52469542dup, NC_000019.9:g.52469540_52469542dup, NC_000019.9:g.52469539_52469542dup, NC_000019.9:g.52469537_52469542dup, NC_000019.9:g.52469535_52469542dup, NC_000019.9:g.52469542_52469543insTTTTTTTTT, NC_000019.9:g.52469542_52469543insTTTTTTTTTT, NC_000019.9:g.52469542_52469543insTTTTTTTTTTTTTTTT, NC_000019.9:g.52469542_52469543insTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.52469542_52469543insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
18.
rs1489819674 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:51947626
(GRCh38)
19:52450879
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51947625:A:G
- Gene:
- ZNF350-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000036/5
(GnomAD)
- HGVS:
19.
rs1489802110 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 19:51981195
(GRCh38)
19:52484448
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51981194:C:G,NC_000019.10:51981194:C:T
- Gene:
- ZNF350 (Varview), ZNF350-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00005/1
(
ALFA)
T=0.00022/1
(Estonian)
- HGVS:
20.
rs1489385438 has merged into rs113694086 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT,TTT,TTTT,TTTTTTT
[Show Flanks]
- Chromosome:
- 19:51966645
(GRCh38)
19:52469898
(GRCh37)
- Canonical SPDI:
- NC_000019.10:51966644:TT:T,NC_000019.10:51966644:TT:TTT,NC_000019.10:51966644:TT:TTTT,NC_000019.10:51966644:TT:TTTTT,NC_000019.10:51966644:TT:TTTTTTTT
- Gene:
- ZNF350 (Varview), ZNF350-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0./0
(
ALFA)
-=0.11167/67
(NorthernSweden)
-=0.2/8
(GENOME_DK)
- HGVS: