Links from Gene
Items: 1 to 20 of 1000
1.
rs1491538511 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 12:132956928
(GRCh38)
12:133533514
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132956927:AT:
- Gene:
- ZNF605 (Varview), LOC124903064 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000028/3
(GnomAD)
-=0.000537/15
(TOMMO)
- HGVS:
2.
rs1491518987 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 12:132950422
(GRCh38)
12:133527008
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132950420:ACA:A
- Gene:
- ZNF605 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
3.
rs1491402730 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ACGCACATACGTGCAGAC
[Show Flanks]
- Chromosome:
- 12:132950421
(GRCh38)
12:133527008
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132950421:CAGACACGCACATACGTGCAGAC:CAGACACGCACATACGTGCAGACACGCACATACGTGCAGAC
- Gene:
- ZNF605 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CAGACACGCACATACGTGCAGACACGCACATACGTGCAGAC=0./0
(
ALFA)
- HGVS:
4.
rs1491385957 has merged into rs112682806 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACA>-,CACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA
[Show Flanks]
- Chromosome:
- 12:132934102
(GRCh38)
12:133510688
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132934096:ACACACACACACACACA:ACACA,NC_000012.12:132934096:ACACACACACACACACA:ACACACACACACACA,NC_000012.12:132934096:ACACACACACACACACA:ACACACACACACACACACA,NC_000012.12:132934096:ACACACACACACACACA:ACACACACACACACACACACA,NC_000012.12:132934096:ACACACACACACACACA:ACACACACACACACACACACACA
- Gene:
- ZNF605 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACACA=0./0
(
ALFA)
AC=0.0769/2
(GENOME_DK)
- HGVS:
5.
rs1491349115 has merged into rs56281488 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:132937369
(GRCh38)
12:133513955
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132937359:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:132937359:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:132937359:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:132937359:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:132937359:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:132937359:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:132937359:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:132937359:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:132937359:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132937359:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132937359:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132937359:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132937359:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132937359:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132937359:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132937359:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132937359:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132937359:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132937359:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132937359:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132937359:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132937359:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132937359:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:132937359:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF605 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000012.12:g.132937369_132937380del, NC_000012.12:g.132937373_132937380del, NC_000012.12:g.132937374_132937380del, NC_000012.12:g.132937375_132937380del, NC_000012.12:g.132937377_132937380del, NC_000012.12:g.132937378_132937380del, NC_000012.12:g.132937379_132937380del, NC_000012.12:g.132937380del, NC_000012.12:g.132937380dup, NC_000012.12:g.132937379_132937380dup, NC_000012.12:g.132937378_132937380dup, NC_000012.12:g.132937377_132937380dup, NC_000012.12:g.132937376_132937380dup, NC_000012.12:g.132937375_132937380dup, NC_000012.12:g.132937374_132937380dup, NC_000012.12:g.132937373_132937380dup, NC_000012.12:g.132937370_132937380dup, NC_000012.12:g.132937368_132937380dup, NC_000012.12:g.132937361_132937380dup, NC_000012.12:g.132937380_132937381insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.132937380_132937381insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.132937380_132937381insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.132937380_132937381insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.12:g.132937380_132937381insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.133513955_133513966del, NC_000012.11:g.133513959_133513966del, NC_000012.11:g.133513960_133513966del, NC_000012.11:g.133513961_133513966del, NC_000012.11:g.133513963_133513966del, NC_000012.11:g.133513964_133513966del, NC_000012.11:g.133513965_133513966del, NC_000012.11:g.133513966del, NC_000012.11:g.133513966dup, NC_000012.11:g.133513965_133513966dup, NC_000012.11:g.133513964_133513966dup, NC_000012.11:g.133513963_133513966dup, NC_000012.11:g.133513962_133513966dup, NC_000012.11:g.133513961_133513966dup, NC_000012.11:g.133513960_133513966dup, NC_000012.11:g.133513959_133513966dup, NC_000012.11:g.133513956_133513966dup, NC_000012.11:g.133513954_133513966dup, NC_000012.11:g.133513947_133513966dup, NC_000012.11:g.133513966_133513967insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.133513966_133513967insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.133513966_133513967insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.133513966_133513967insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000012.11:g.133513966_133513967insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
6.
rs1491298728 has merged into rs1294091134 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA
[Show Flanks]
- Chromosome:
- 12:132929037
(GRCh38)
12:133505623
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132929034:AAAA:AA,NC_000012.12:132929034:AAAA:AAA,NC_000012.12:132929034:AAAA:AAAAA,NC_000012.12:132929034:AAAA:AAAAAA
- Gene:
- ZNF605 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
-=0.00016/1
(1000Genomes)
- HGVS:
7.
rs1491273499 has merged into rs34041712 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:132956941
(GRCh38)
12:133533527
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132956928:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:132956928:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:132956928:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:132956928:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:132956928:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:132956928:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:132956928:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:132956928:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:132956928:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:132956928:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:132956928:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:132956928:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:132956928:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:132956928:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:132956928:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF605 (Varview), LOC124903064 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000012.12:g.132956941_132956951del, NC_000012.12:g.132956942_132956951del, NC_000012.12:g.132956943_132956951del, NC_000012.12:g.132956945_132956951del, NC_000012.12:g.132956946_132956951del, NC_000012.12:g.132956948_132956951del, NC_000012.12:g.132956949_132956951del, NC_000012.12:g.132956950_132956951del, NC_000012.12:g.132956951del, NC_000012.12:g.132956951dup, NC_000012.12:g.132956950_132956951dup, NC_000012.12:g.132956949_132956951dup, NC_000012.12:g.132956948_132956951dup, NC_000012.12:g.132956947_132956951dup, NC_000012.12:g.132956946_132956951dup, NC_000012.11:g.133533527_133533537del, NC_000012.11:g.133533528_133533537del, NC_000012.11:g.133533529_133533537del, NC_000012.11:g.133533531_133533537del, NC_000012.11:g.133533532_133533537del, NC_000012.11:g.133533534_133533537del, NC_000012.11:g.133533535_133533537del, NC_000012.11:g.133533536_133533537del, NC_000012.11:g.133533537del, NC_000012.11:g.133533537dup, NC_000012.11:g.133533536_133533537dup, NC_000012.11:g.133533535_133533537dup, NC_000012.11:g.133533534_133533537dup, NC_000012.11:g.133533533_133533537dup, NC_000012.11:g.133533532_133533537dup
9.
rs1491188954 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 12:132951580
(GRCh38)
12:133528166
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132951574:ACACACA:ACACA
- Gene:
- ZNF605 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACA=0./0
(
ALFA)
-=0.000035/1
(TOMMO)
-=0.000037/5
(GnomAD)
- HGVS:
10.
rs1491152961 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CAA
[Show Flanks]
- Chromosome:
- 12:132929035
(GRCh38)
12:133505622
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132929035:AA:AACAA
- Gene:
- ZNF605 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AACAA=0.00008/1
(
ALFA)
AAC=0.00014/2
(GnomAD)
- HGVS:
11.
rs1491058915 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TGATGTATGATGT
[Show Flanks]
- Chromosome:
- 12:132951062
(GRCh38)
12:133527649
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132951062::TGATGTATGATGT
- Gene:
- ZNF605 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TGATGTATGATGT=0.000084/1
(
ALFA)
TGATGTATGATGT=0.000022/3
(GnomAD)
- HGVS:
12.
rs1491031757 has merged into rs138733613 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACA>-,CA,CACACA
[Show Flanks]
- Chromosome:
- 12:132950468
(GRCh38)
12:133527054
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132950464:ACACACA:ACA,NC_000012.12:132950464:ACACACA:ACACA,NC_000012.12:132950464:ACACACA:ACACACACA
- Gene:
- ZNF605 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACA=0./0
(
ALFA)
AC=0.3333/2
(GENOME_DK)
-=0.3517/58
(TOMMO)
-=0.3903/715
(Korea1K)
- HGVS:
13.
rs1490965579 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:132948602
(GRCh38)
12:133525188
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132948601:C:T
- Gene:
- ZNF605 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000057/15
(TOPMED)
T=0.000064/9
(GnomAD)
- HGVS:
14.
rs1490961002 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:132936639
(GRCh38)
12:133513225
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132936638:G:A
- Gene:
- ZNF605 (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:
15.
rs1490781817 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:132954155
(GRCh38)
12:133530741
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132954154:T:C
- Gene:
- ZNF605 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
16.
rs1490617195 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AG
[Show Flanks]
- Chromosome:
- 12:132954373
(GRCh38)
12:133530960
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132954373:AG:AGAG
- Gene:
- ZNF605 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AGAG=0./0
(
ALFA)
AG=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490601499 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:132953821
(GRCh38)
12:133530407
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132953820:A:G
- Gene:
- ZNF605 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS:
19.
rs1490476397 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:132927943
(GRCh38)
12:133504529
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132927942:C:A
- Gene:
- ZNF605 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490328146 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:132939026
(GRCh38)
12:133515612
(GRCh37)
- Canonical SPDI:
- NC_000012.12:132939025:G:A
- Gene:
- ZNF605 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0./0
(GnomAD)
- HGVS: