Links from Gene
Items: 1 to 20 of 6972
2.
rs1491486425 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 19:12317490
(GRCh38)
19:12428305
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12317490::G
- Gene:
- ZNF563 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
3.
rs1491416030 has merged into rs567439951 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:12332357
(GRCh38)
19:12443171
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12332347:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF563 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.1248/625
(1000Genomes)
T=0.25/10
(GENOME_DK)
- HGVS:
NC_000019.10:g.12332357_12332364del, NC_000019.10:g.12332358_12332364del, NC_000019.10:g.12332359_12332364del, NC_000019.10:g.12332360_12332364del, NC_000019.10:g.12332361_12332364del, NC_000019.10:g.12332362_12332364del, NC_000019.10:g.12332363_12332364del, NC_000019.10:g.12332364del, NC_000019.10:g.12332364dup, NC_000019.10:g.12332363_12332364dup, NC_000019.10:g.12332362_12332364dup, NC_000019.10:g.12332361_12332364dup, NC_000019.10:g.12332359_12332364dup, NC_000019.10:g.12332358_12332364dup, NC_000019.10:g.12332357_12332364dup, NC_000019.10:g.12332356_12332364dup, NC_000019.10:g.12332354_12332364dup, NC_000019.10:g.12332364_12332365insTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.12443171_12443178del, NC_000019.9:g.12443172_12443178del, NC_000019.9:g.12443173_12443178del, NC_000019.9:g.12443174_12443178del, NC_000019.9:g.12443175_12443178del, NC_000019.9:g.12443176_12443178del, NC_000019.9:g.12443177_12443178del, NC_000019.9:g.12443178del, NC_000019.9:g.12443178dup, NC_000019.9:g.12443177_12443178dup, NC_000019.9:g.12443176_12443178dup, NC_000019.9:g.12443175_12443178dup, NC_000019.9:g.12443173_12443178dup, NC_000019.9:g.12443172_12443178dup, NC_000019.9:g.12443171_12443178dup, NC_000019.9:g.12443170_12443178dup, NC_000019.9:g.12443168_12443178dup, NC_000019.9:g.12443178_12443179insTTTTTTTTTTTTTTTTTTTT
4.
rs1491402364 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 19:12324366
(GRCh38)
19:12435180
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12324364:ATA:A
- Gene:
- ZNF563 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
-=0.000015/4
(TOPMED)
- HGVS:
6.
rs1491378955 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 19:12318009
(GRCh38)
19:12428823
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12318008:CT:
- Gene:
- ZNF563 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
7.
rs1491349587 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTTT
[Show Flanks]
- Chromosome:
- 19:12329926
(GRCh38)
19:12440741
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12329926:TTT:TTTCTTT
- Gene:
- ZNF563 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTCTTT=0./0
(
ALFA)
TTTC=0.00002/2
(GnomAD)
- HGVS:
8.
rs1491280138 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 19:12346866
(GRCh38)
19:12457681
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12346866:T:TT
- Gene:
- ZNF442 (Varview), ZNF563 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1491264472 has merged into rs55994665 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:12339283
(GRCh38)
19:12450097
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:12339273:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF563 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.12339283_12339297del, NC_000019.10:g.12339285_12339297del, NC_000019.10:g.12339287_12339297del, NC_000019.10:g.12339288_12339297del, NC_000019.10:g.12339290_12339297del, NC_000019.10:g.12339291_12339297del, NC_000019.10:g.12339292_12339297del, NC_000019.10:g.12339294_12339297del, NC_000019.10:g.12339295_12339297del, NC_000019.10:g.12339296_12339297del, NC_000019.10:g.12339297del, NC_000019.10:g.12339297dup, NC_000019.10:g.12339296_12339297dup, NC_000019.10:g.12339295_12339297dup, NC_000019.10:g.12339294_12339297dup, NC_000019.10:g.12339293_12339297dup, NC_000019.10:g.12339292_12339297dup, NC_000019.10:g.12339291_12339297dup, NC_000019.10:g.12339290_12339297dup, NC_000019.10:g.12339289_12339297dup, NC_000019.10:g.12339288_12339297dup, NC_000019.10:g.12339287_12339297dup, NC_000019.10:g.12339285_12339297dup, NC_000019.10:g.12339284_12339297dup, NC_000019.10:g.12339280_12339297dup, NC_000019.10:g.12339297_12339298insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.12450097_12450111del, NC_000019.9:g.12450099_12450111del, NC_000019.9:g.12450101_12450111del, NC_000019.9:g.12450102_12450111del, NC_000019.9:g.12450104_12450111del, NC_000019.9:g.12450105_12450111del, NC_000019.9:g.12450106_12450111del, NC_000019.9:g.12450108_12450111del, NC_000019.9:g.12450109_12450111del, NC_000019.9:g.12450110_12450111del, NC_000019.9:g.12450111del, NC_000019.9:g.12450111dup, NC_000019.9:g.12450110_12450111dup, NC_000019.9:g.12450109_12450111dup, NC_000019.9:g.12450108_12450111dup, NC_000019.9:g.12450107_12450111dup, NC_000019.9:g.12450106_12450111dup, NC_000019.9:g.12450105_12450111dup, NC_000019.9:g.12450104_12450111dup, NC_000019.9:g.12450103_12450111dup, NC_000019.9:g.12450102_12450111dup, NC_000019.9:g.12450101_12450111dup, NC_000019.9:g.12450099_12450111dup, NC_000019.9:g.12450098_12450111dup, NC_000019.9:g.12450094_12450111dup, NC_000019.9:g.12450111_12450112insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
13.
rs1491165326 has merged into rs113676690 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTTTT
[Show Flanks]
- Chromosome:
- 19:12329935
(GRCh38)
19:12440749
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12329925:TTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:12329925:TTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:12329925:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:12329925:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:12329925:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:12329925:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- ZNF563 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.075/3
(GENOME_DK)
-=0.159655/592
(TWINSUK)
-=0.16/96
(NorthernSweden)
-=0.170472/657
(ALSPAC)
-=0.186887/49467
(TOPMED)
-=0.206669/1035
(1000Genomes)
- HGVS:
NC_000019.10:g.12329935_12329937del, NC_000019.10:g.12329936_12329937del, NC_000019.10:g.12329937del, NC_000019.10:g.12329937dup, NC_000019.10:g.12329936_12329937dup, NC_000019.10:g.12329933_12329937dup, NC_000019.9:g.12440749_12440751del, NC_000019.9:g.12440750_12440751del, NC_000019.9:g.12440751del, NC_000019.9:g.12440751dup, NC_000019.9:g.12440750_12440751dup, NC_000019.9:g.12440747_12440751dup
14.
rs1491106645 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 19:12346868
(GRCh38)
19:12457682
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12346865:ATAT:AT
- Gene:
- ZNF442 (Varview), ZNF563 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
ATAT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490792625 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:12317245
(GRCh38)
19:12428059
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12317244:C:T
- Gene:
- ZNF563 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490543256 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:12338728
(GRCh38)
19:12449542
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12338727:T:C
- Gene:
- ZNF563 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
18.
rs1490491505 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:12347070
(GRCh38)
19:12457884
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12347069:C:A
- Gene:
- ZNF442 (Varview), ZNF563 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490453103 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:12330867
(GRCh38)
19:12441681
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12330866:A:G
- Gene:
- ZNF563 (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:
20.
rs1490407572 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:12329732
(GRCh38)
19:12440546
(GRCh37)
- Canonical SPDI:
- NC_000019.10:12329731:T:C
- Gene:
- ZNF563 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: