Links from Gene
Items: 1 to 20 of 6105
1.
rs1491558051 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 19:12357963
(GRCh38)
19:12468777
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12357962:CT:
- Gene:
- ZNF442 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000084/1
(
ALFA)
-=0.000022/3
(GnomAD)
- HGVS:
2.
rs1491017471 has merged into rs5827145 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:12357356
(GRCh38)
19:12468170
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12357349:TTTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000019.10:12357349:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:12357349:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:12357349:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:12357349:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:12357349:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:12357349:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:12357349:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:12357349:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:12357349:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:12357349:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:12357349:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:12357349:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:12357349:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:12357349:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12357349:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12357349:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12357349:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12357349:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12357349:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12357349:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12357349:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12357349:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12357349:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12357349:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12357349:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12357349:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12357349:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF442 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.12357356_12357370del, NC_000019.10:g.12357358_12357370del, NC_000019.10:g.12357359_12357370del, NC_000019.10:g.12357360_12357370del, NC_000019.10:g.12357361_12357370del, NC_000019.10:g.12357362_12357370del, NC_000019.10:g.12357363_12357370del, NC_000019.10:g.12357364_12357370del, NC_000019.10:g.12357365_12357370del, NC_000019.10:g.12357366_12357370del, NC_000019.10:g.12357367_12357370del, NC_000019.10:g.12357368_12357370del, NC_000019.10:g.12357369_12357370del, NC_000019.10:g.12357370del, NC_000019.10:g.12357370dup, NC_000019.10:g.12357369_12357370dup, NC_000019.10:g.12357368_12357370dup, NC_000019.10:g.12357367_12357370dup, NC_000019.10:g.12357366_12357370dup, NC_000019.10:g.12357365_12357370dup, NC_000019.10:g.12357364_12357370dup, NC_000019.10:g.12357363_12357370dup, NC_000019.10:g.12357362_12357370dup, NC_000019.10:g.12357361_12357370dup, NC_000019.10:g.12357360_12357370dup, NC_000019.10:g.12357359_12357370dup, NC_000019.10:g.12357358_12357370dup, NC_000019.10:g.12357350_12357370dup, NC_000019.9:g.12468170_12468184del, NC_000019.9:g.12468172_12468184del, NC_000019.9:g.12468173_12468184del, NC_000019.9:g.12468174_12468184del, NC_000019.9:g.12468175_12468184del, NC_000019.9:g.12468176_12468184del, NC_000019.9:g.12468177_12468184del, NC_000019.9:g.12468178_12468184del, NC_000019.9:g.12468179_12468184del, NC_000019.9:g.12468180_12468184del, NC_000019.9:g.12468181_12468184del, NC_000019.9:g.12468182_12468184del, NC_000019.9:g.12468183_12468184del, NC_000019.9:g.12468184del, NC_000019.9:g.12468184dup, NC_000019.9:g.12468183_12468184dup, NC_000019.9:g.12468182_12468184dup, NC_000019.9:g.12468181_12468184dup, NC_000019.9:g.12468180_12468184dup, NC_000019.9:g.12468179_12468184dup, NC_000019.9:g.12468178_12468184dup, NC_000019.9:g.12468177_12468184dup, NC_000019.9:g.12468176_12468184dup, NC_000019.9:g.12468175_12468184dup, NC_000019.9:g.12468174_12468184dup, NC_000019.9:g.12468173_12468184dup, NC_000019.9:g.12468172_12468184dup, NC_000019.9:g.12468164_12468184dup
3.
rs1490820208 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 19:12355349
(GRCh38)
19:12466163
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12355348:C:A,NC_000019.10:12355348:C:T
- Gene:
- ZNF442 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.02293/67
(KOREAN)
- HGVS:
4.
rs1490765936 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:12368552
(GRCh38)
19:12479366
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12368551:G:A
- Gene:
- ZNF442 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490622989 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAAAAAA>-
[Show Flanks]
- Chromosome:
- 19:12360894
(GRCh38)
19:12471708
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12360879:AAAAAAATAAAAAAATAAAAAA:AAAAAAATAAAAAA
- Gene:
- ZNF442 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00007/1
(TOMMO)
- HGVS:
6.
rs1490621501 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:12371790
(GRCh38)
19:12482604
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12371789:A:G
- Gene:
- ZNF442 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000094/1
(
ALFA)
G=0./0
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
7.
rs1490549201 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:12354025
(GRCh38)
19:12464839
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12354024:C:G
- Gene:
- ZNF442 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
8.
rs1490490121 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:12350568
(GRCh38)
19:12461382
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12350567:G:A
- Gene:
- ZNF442 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000019.10:g.12350568G>A, NC_000019.9:g.12461382G>A, XM_006722908.4:c.996C>T, XM_006722908.3:c.996C>T, XM_006722908.2:c.996C>T, XM_006722908.1:c.996C>T, NM_030824.3:c.1017C>T, NM_030824.2:c.1017C>T, XM_017027317.2:c.846C>T, XM_017027317.1:c.846C>T, NM_001363774.2:c.810C>T, NM_001363774.1:c.810C>T, XM_017027316.2:c.846C>T, XM_017027316.1:c.1041C>T, XR_007067014.1:n.939C>T
9.
rs1490043580 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:12362088
(GRCh38)
19:12472902
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12362087:C:T
- Gene:
- ZNF442 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
10.
rs1489978446 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 19:12355628
(GRCh38)
19:12466442
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12355627:G:A,NC_000019.10:12355627:G:T
- Gene:
- ZNF442 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000142/2
(TOMMO)
- HGVS:
11.
rs1489878190 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:12361786
(GRCh38)
19:12472600
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12361785:A:C
- Gene:
- ZNF442 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1489836852 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:12370404
(GRCh38)
19:12481218
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12370403:A:C
- Gene:
- ZNF442 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_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.
rs1489665915 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:12353486
(GRCh38)
19:12464300
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12353485:G:T
- Gene:
- ZNF442 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
15.
rs1489504570 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:12374563
(GRCh38)
19:12485377
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12374562:G:A
- Gene:
- ZNF442 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_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.
rs1489474957 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:12359317
(GRCh38)
19:12470131
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12359316:A:G
- Gene:
- ZNF442 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000023/6
(TOPMED)
G=0.000156/1
(1000Genomes)
G=0.000212/4
(TOMMO)
G=0.000546/1
(Korea1K)
G=0.001369/4
(KOREAN)
- HGVS:
18.
rs1489405593 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:12367595
(GRCh38)
19:12478409
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12367594:G:C
- Gene:
- ZNF442 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1489345434 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:12352846
(GRCh38)
19:12463660
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12352845:T:C
- Gene:
- ZNF442 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
20.
rs1489177943 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:12350922
(GRCh38)
19:12461736
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12350921:A:G
- Gene:
- ZNF442 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000019.10:g.12350922A>G, NC_000019.9:g.12461736A>G, XM_006722908.4:c.642T>C, XM_006722908.3:c.642T>C, XM_006722908.2:c.642T>C, XM_006722908.1:c.642T>C, NM_030824.3:c.663T>C, NM_030824.2:c.663T>C, XM_017027317.2:c.492T>C, XM_017027317.1:c.492T>C, NM_001363774.2:c.456T>C, NM_001363774.1:c.456T>C, XM_017027316.2:c.492T>C, XM_017027316.1:c.687T>C, XR_007067014.1:n.585T>C