Links from Gene
Items: 1 to 20 of 1000
1.
rs1491588522 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CCCATTTCAAAAAAA
[Show Flanks]
- Chromosome:
- 20:46510758
(GRCh38)
20:45139398
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46510758:AAAAAAA:AAAAAAACCCATTTCAAAAAAA
- Gene:
- ZNF334 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAAAAACCCATTTCAAAAAAA=0./0
(
ALFA)
AAAAAAACCCATTTC=0.00007/2
(GnomAD)
- HGVS:
2.
rs1491588262 has merged into rs11476476 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 20:46489664
(GRCh38)
20:45118303
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46489649:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF334 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000020.11:g.46489664_46489672del, NC_000020.11:g.46489665_46489672del, NC_000020.11:g.46489666_46489672del, NC_000020.11:g.46489667_46489672del, NC_000020.11:g.46489668_46489672del, NC_000020.11:g.46489669_46489672del, NC_000020.11:g.46489670_46489672del, NC_000020.11:g.46489671_46489672del, NC_000020.11:g.46489672del, NC_000020.11:g.46489672dup, NC_000020.11:g.46489671_46489672dup, NC_000020.11:g.46489670_46489672dup, NC_000020.11:g.46489668_46489672dup, NC_000020.11:g.46489667_46489672dup, NC_000020.11:g.46489659_46489672dup, NC_000020.11:g.46489672_46489673insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.45118303_45118311del, NC_000020.10:g.45118304_45118311del, NC_000020.10:g.45118305_45118311del, NC_000020.10:g.45118306_45118311del, NC_000020.10:g.45118307_45118311del, NC_000020.10:g.45118308_45118311del, NC_000020.10:g.45118309_45118311del, NC_000020.10:g.45118310_45118311del, NC_000020.10:g.45118311del, NC_000020.10:g.45118311dup, NC_000020.10:g.45118310_45118311dup, NC_000020.10:g.45118309_45118311dup, NC_000020.10:g.45118307_45118311dup, NC_000020.10:g.45118306_45118311dup, NC_000020.10:g.45118298_45118311dup, NC_000020.10:g.45118311_45118312insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
3.
rs1491492123 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CA
[Show Flanks]
- Chromosome:
- 20:46488420
(GRCh38)
20:45117060
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46488420:A:ACA
- Gene:
- ZNF334 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
ACA=0./0
(
ALFA)
AC=0.000004/1
(TOPMED)
- HGVS:
5.
rs1491377813 has merged into rs901917484 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,AAAA
[Show Flanks]
- Chromosome:
- 20:46488444
(GRCh38)
20:45117083
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46488442:AAA:A,NC_000020.11:46488442:AAA:AAAAA
- Gene:
- ZNF334 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAA=0./0
(
ALFA)
-=0.00004/1
(TOMMO)
- HGVS:
6.
rs1491168889 has merged into rs61489091 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 20:46499185
(GRCh38)
20:45127824
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:46499173:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF334 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000020.11:g.46499185_46499201del, NC_000020.11:g.46499186_46499201del, NC_000020.11:g.46499187_46499201del, NC_000020.11:g.46499188_46499201del, NC_000020.11:g.46499189_46499201del, NC_000020.11:g.46499190_46499201del, NC_000020.11:g.46499191_46499201del, NC_000020.11:g.46499192_46499201del, NC_000020.11:g.46499193_46499201del, NC_000020.11:g.46499194_46499201del, NC_000020.11:g.46499195_46499201del, NC_000020.11:g.46499196_46499201del, NC_000020.11:g.46499197_46499201del, NC_000020.11:g.46499199_46499201del, NC_000020.11:g.46499200_46499201del, NC_000020.11:g.46499201del, NC_000020.11:g.46499201dup, NC_000020.11:g.46499200_46499201dup, NC_000020.11:g.46499199_46499201dup, NC_000020.11:g.46499198_46499201dup, NC_000020.11:g.46499197_46499201dup, NC_000020.11:g.46499194_46499201dup, NC_000020.10:g.45127824_45127840del, NC_000020.10:g.45127825_45127840del, NC_000020.10:g.45127826_45127840del, NC_000020.10:g.45127827_45127840del, NC_000020.10:g.45127828_45127840del, NC_000020.10:g.45127829_45127840del, NC_000020.10:g.45127830_45127840del, NC_000020.10:g.45127831_45127840del, NC_000020.10:g.45127832_45127840del, NC_000020.10:g.45127833_45127840del, NC_000020.10:g.45127834_45127840del, NC_000020.10:g.45127835_45127840del, NC_000020.10:g.45127836_45127840del, NC_000020.10:g.45127838_45127840del, NC_000020.10:g.45127839_45127840del, NC_000020.10:g.45127840del, NC_000020.10:g.45127840dup, NC_000020.10:g.45127839_45127840dup, NC_000020.10:g.45127838_45127840dup, NC_000020.10:g.45127837_45127840dup, NC_000020.10:g.45127836_45127840dup, NC_000020.10:g.45127833_45127840dup
8.
rs1491080562 has merged into rs545678374 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT
[Show Flanks]
- Chromosome:
- 20:46468455
(GRCh38)
20:45097094
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46468441:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:46468441:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:46468441:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:46468441:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:46468441:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
- Gene:
- ZNF334 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0.00016/2
(
ALFA)
- HGVS:
9.
rs1490997347 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 20:46479374
(GRCh38)
20:45108013
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46479373:C:G,NC_000020.11:46479373:C:T
- Gene:
- ZNF334 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
- HGVS:
10.
rs1490754800 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:46511872
(GRCh38)
20:45140511
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46511871:G:A
- Gene:
- ZNF334 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490715194 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:46470088
(GRCh38)
20:45098727
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46470087:A:G
- Gene:
- ZNF334 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
12.
rs1490676054 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:46473413
(GRCh38)
20:45102052
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46473412:A:G
- Gene:
- ZNF334 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
13.
rs1490646884 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:46475904
(GRCh38)
20:45104543
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46475903:T:C
- Gene:
- ZNF334 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
14.
rs1490461071 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:46477495
(GRCh38)
20:45106134
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46477494:T:C
- Gene:
- ZNF334 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,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:
15.
rs1490417007 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 20:46491737
(GRCh38)
20:45120376
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46491736:T:G
- Gene:
- ZNF334 (Varview)
- Functional Consequence:
- genic_downstream_transcript_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.
rs1490316915 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:46473665
(GRCh38)
20:45102304
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46473664:T:C
- Gene:
- ZNF334 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490235916 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 20:46468694
(GRCh38)
20:45097333
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46468693:A:C
- Gene:
- ZNF334 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
18.
rs1490230104 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CTT>-
[Show Flanks]
- Chromosome:
- 20:46486855
(GRCh38)
20:45115494
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46486854:CTT:
- Gene:
- ZNF334 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490223013 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:46469536
(GRCh38)
20:45098175
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46469535:T:C
- Gene:
- ZNF334 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000013/1
(GnomAD)
- HGVS:
20.
rs1490199629 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 20:46485878
(GRCh38)
20:45114517
(GRCh37)
- Canonical SPDI:
- NC_000020.11:46485877:C:A
- Gene:
- ZNF334 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: