Links from Gene
Items: 1 to 20 of 1000
1.
rs1491520114 has merged into rs398001053 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,T,TTT,TTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 6:27372870
(GRCh38)
6:27340649
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27372861:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000006.12:27372861:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:27372861:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:27372861:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:27372861:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:27372861:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:27372861:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:27372861:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:27372861:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:27372861:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:27372861:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:27372861:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF204P (Varview), ZNF391 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
T=0.375/3
(KOREAN)
- HGVS:
NC_000006.12:g.27372870_27372879del, NC_000006.12:g.27372871_27372879del, NC_000006.12:g.27372873_27372879del, NC_000006.12:g.27372874_27372879del, NC_000006.12:g.27372877_27372879del, NC_000006.12:g.27372878_27372879del, NC_000006.12:g.27372879del, NC_000006.12:g.27372879dup, NC_000006.12:g.27372878_27372879dup, NC_000006.12:g.27372877_27372879dup, NC_000006.12:g.27372876_27372879dup, NC_000006.12:g.27372870_27372879dup, NC_000006.11:g.27340649_27340658del, NC_000006.11:g.27340650_27340658del, NC_000006.11:g.27340652_27340658del, NC_000006.11:g.27340653_27340658del, NC_000006.11:g.27340656_27340658del, NC_000006.11:g.27340657_27340658del, NC_000006.11:g.27340658del, NC_000006.11:g.27340658dup, NC_000006.11:g.27340657_27340658dup, NC_000006.11:g.27340656_27340658dup, NC_000006.11:g.27340655_27340658dup, NC_000006.11:g.27340649_27340658dup
2.
rs1490748812 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 6:27363298
(GRCh38)
6:27331077
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27363297:G:C
- Gene:
- ZNF204P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
3.
rs1490260452 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 6:27364780
(GRCh38)
6:27332559
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27364779:A:T
- Gene:
- ZNF204P (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:
4.
rs1490123135 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:27371766
(GRCh38)
6:27339545
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27371765:T:C
- Gene:
- ZNF204P (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000142/2
(TOMMO)
- HGVS:
6.
rs1489346515 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:27361727
(GRCh38)
6:27329506
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27361726:C:T
- Gene:
- ZNF204P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
7.
rs1489178818 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:27375698
(GRCh38)
6:27343477
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27375697:C:T
- Gene:
- ZNF204P (Varview), ZNF391 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1489106913 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 6:27359840
(GRCh38)
6:27327619
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27359839:CC:C
- Gene:
- ZNF204P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0.000084/1
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000156/1
(1000Genomes)
- HGVS:
9.
rs1488974499 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTCAACA>-
[Show Flanks]
- Chromosome:
- 6:27361315
(GRCh38)
6:27329094
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27361310:AACATTCAACA:AACA
- Gene:
- ZNF204P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AACA=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
10.
rs1488954852 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:27374149
(GRCh38)
6:27341928
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27374148:C:T
- Gene:
- ZNF204P (Varview), ZNF391 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1488830868 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 6:27374490
(GRCh38)
6:27342269
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27374489:C:G,NC_000006.12:27374489:C:T
- Gene:
- ZNF204P (Varview), ZNF391 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1488720823 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 6:27359305
(GRCh38)
6:27327084
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27359304:C:A,NC_000006.12:27359304:C:T
- Gene:
- ZNF204P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
T=0.000007/1
(GnomAD_exomes)
- HGVS:
13.
rs1488427475 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 6:27372954
(GRCh38)
6:27340733
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27372953:G:C
- Gene:
- ZNF204P (Varview), ZNF391 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
14.
rs1488392729 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 6:27375675
(GRCh38)
6:27343454
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27375674:G:A,NC_000006.12:27375674:G:C
- Gene:
- ZNF204P (Varview), ZNF391 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000684/2
(KOREAN)
- HGVS:
15.
rs1488107405 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:27375133
(GRCh38)
6:27342912
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27375132:A:G
- Gene:
- ZNF204P (Varview), ZNF391 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
16.
rs1487470067 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:27376782
(GRCh38)
6:27344561
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27376781:G:A
- Gene:
- ZNF204P (Varview), ZNF391 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1487459752 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:27362023
(GRCh38)
6:27329802
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27362022:A:G
- Gene:
- ZNF204P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1487455721 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:27364297
(GRCh38)
6:27332076
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27364296:T:C
- Gene:
- ZNF204P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1487197429 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 6:27374016
(GRCh38)
6:27341795
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27374015:AAAA:AAA
- Gene:
- ZNF204P (Varview), ZNF391 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
20.
rs1487175446 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:27365177
(GRCh38)
6:27332956
(GRCh37)
- Canonical SPDI:
- NC_000006.12:27365176:A:G
- Gene:
- ZNF204P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS: