Links from Gene
Items: 1 to 20 of 1000
4.
rs1491573815 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 18:25283934
(GRCh38)
18:22863899
(GRCh37)
- Canonical SPDI:
- NC_000018.10:25283934::C
- Gene:
- ZNF521 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000009/1
(GnomAD)
- HGVS:
5.
rs1491566622 has merged into rs377173156 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 18:25316336
(GRCh38)
18:22896300
(GRCh37)
- Canonical SPDI:
- NC_000018.10:25316323:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:25316323:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:25316323:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:25316323:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:25316323:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:25316323:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- ZNF521 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.08251/318
(ALSPAC)
-=0.09088/337
(TWINSUK)
-=0.15056/754
(1000Genomes)
-=0.275/11
(GENOME_DK)
- HGVS:
NC_000018.10:g.25316336_25316339del, NC_000018.10:g.25316337_25316339del, NC_000018.10:g.25316338_25316339del, NC_000018.10:g.25316339del, NC_000018.10:g.25316339dup, NC_000018.10:g.25316338_25316339dup, NC_000018.9:g.22896300_22896303del, NC_000018.9:g.22896301_22896303del, NC_000018.9:g.22896302_22896303del, NC_000018.9:g.22896303del, NC_000018.9:g.22896303dup, NC_000018.9:g.22896302_22896303dup
6.
rs1491555832 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 18:25348058
(GRCh38)
18:22928023
(GRCh37)
- Canonical SPDI:
- NC_000018.10:25348058:TTTTT:TTTTTT
- Gene:
- ZNF521 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTTTT=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
7.
rs1491550903 has merged into rs34563599 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 18:25205153
(GRCh38)
18:22785117
(GRCh37)
- Canonical SPDI:
- NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25205141:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF521 (Varview), LOC124904270 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000018.10:g.25205153_25205171del, NC_000018.10:g.25205154_25205171del, NC_000018.10:g.25205155_25205171del, NC_000018.10:g.25205156_25205171del, NC_000018.10:g.25205157_25205171del, NC_000018.10:g.25205158_25205171del, NC_000018.10:g.25205159_25205171del, NC_000018.10:g.25205160_25205171del, NC_000018.10:g.25205161_25205171del, NC_000018.10:g.25205162_25205171del, NC_000018.10:g.25205163_25205171del, NC_000018.10:g.25205164_25205171del, NC_000018.10:g.25205165_25205171del, NC_000018.10:g.25205166_25205171del, NC_000018.10:g.25205167_25205171del, NC_000018.10:g.25205168_25205171del, NC_000018.10:g.25205169_25205171del, NC_000018.10:g.25205170_25205171del, NC_000018.10:g.25205171del, NC_000018.10:g.25205171dup, NC_000018.10:g.25205170_25205171dup, NC_000018.10:g.25205169_25205171dup, NC_000018.10:g.25205168_25205171dup, NC_000018.10:g.25205167_25205171dup, NC_000018.10:g.25205166_25205171dup, NC_000018.10:g.25205165_25205171dup, NC_000018.10:g.25205164_25205171dup, NC_000018.10:g.25205163_25205171dup, NC_000018.10:g.25205162_25205171dup, NC_000018.10:g.25205161_25205171dup, NC_000018.10:g.25205160_25205171dup, NC_000018.10:g.25205159_25205171dup, NC_000018.10:g.25205158_25205171dup, NC_000018.10:g.25205157_25205171dup, NC_000018.10:g.25205156_25205171dup, NC_000018.10:g.25205155_25205171dup, NC_000018.10:g.25205154_25205171dup, NC_000018.10:g.25205153_25205171dup, NC_000018.10:g.25205152_25205171dup, NC_000018.10:g.25205151_25205171dup, NC_000018.10:g.25205150_25205171dup, NC_000018.10:g.25205148_25205171dup, NC_000018.10:g.25205146_25205171dup, NC_000018.9:g.22785117_22785135del, NC_000018.9:g.22785118_22785135del, NC_000018.9:g.22785119_22785135del, NC_000018.9:g.22785120_22785135del, NC_000018.9:g.22785121_22785135del, NC_000018.9:g.22785122_22785135del, NC_000018.9:g.22785123_22785135del, NC_000018.9:g.22785124_22785135del, NC_000018.9:g.22785125_22785135del, NC_000018.9:g.22785126_22785135del, NC_000018.9:g.22785127_22785135del, NC_000018.9:g.22785128_22785135del, NC_000018.9:g.22785129_22785135del, NC_000018.9:g.22785130_22785135del, NC_000018.9:g.22785131_22785135del, NC_000018.9:g.22785132_22785135del, NC_000018.9:g.22785133_22785135del, NC_000018.9:g.22785134_22785135del, NC_000018.9:g.22785135del, NC_000018.9:g.22785135dup, NC_000018.9:g.22785134_22785135dup, NC_000018.9:g.22785133_22785135dup, NC_000018.9:g.22785132_22785135dup, NC_000018.9:g.22785131_22785135dup, NC_000018.9:g.22785130_22785135dup, NC_000018.9:g.22785129_22785135dup, NC_000018.9:g.22785128_22785135dup, NC_000018.9:g.22785127_22785135dup, NC_000018.9:g.22785126_22785135dup, NC_000018.9:g.22785125_22785135dup, NC_000018.9:g.22785124_22785135dup, NC_000018.9:g.22785123_22785135dup, NC_000018.9:g.22785122_22785135dup, NC_000018.9:g.22785121_22785135dup, NC_000018.9:g.22785120_22785135dup, NC_000018.9:g.22785119_22785135dup, NC_000018.9:g.22785118_22785135dup, NC_000018.9:g.22785117_22785135dup, NC_000018.9:g.22785116_22785135dup, NC_000018.9:g.22785115_22785135dup, NC_000018.9:g.22785114_22785135dup, NC_000018.9:g.22785112_22785135dup, NC_000018.9:g.22785110_22785135dup
10.
rs1491522558 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GTGAAGGT
[Show Flanks]
- Chromosome:
- 18:25205142
(GRCh38)
18:22785107
(GRCh37)
- Canonical SPDI:
- NC_000018.10:25205142::GTGAAGGT
- Gene:
- ZNF521 (Varview), LOC124904270 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GTGAAGGT=0./0
(
ALFA)
GTGAAGGT=0.000004/1
(TOPMED)
- HGVS:
11.
rs1491520068 has merged into rs71902592 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA
[Show Flanks]
- Chromosome:
- 18:25322550
(GRCh38)
18:22902514
(GRCh37)
- Canonical SPDI:
- NC_000018.10:25322535:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:25322535:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:25322535:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:25322535:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:25322535:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:25322535:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:25322535:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25322535:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25322535:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25322535:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF521 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.2115/1059
(1000Genomes)
- HGVS:
NC_000018.10:g.25322550_25322553del, NC_000018.10:g.25322551_25322553del, NC_000018.10:g.25322552_25322553del, NC_000018.10:g.25322553del, NC_000018.10:g.25322553dup, NC_000018.10:g.25322552_25322553dup, NC_000018.10:g.25322551_25322553dup, NC_000018.10:g.25322550_25322553dup, NC_000018.10:g.25322549_25322553dup, NC_000018.10:g.25322548_25322553dup, NC_000018.9:g.22902514_22902517del, NC_000018.9:g.22902515_22902517del, NC_000018.9:g.22902516_22902517del, NC_000018.9:g.22902517del, NC_000018.9:g.22902517dup, NC_000018.9:g.22902516_22902517dup, NC_000018.9:g.22902515_22902517dup, NC_000018.9:g.22902514_22902517dup, NC_000018.9:g.22902513_22902517dup, NC_000018.9:g.22902512_22902517dup
12.
rs1491517153 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TCCA
[Show Flanks]
- Chromosome:
- 18:25219783
(GRCh38)
18:22799748
(GRCh37)
- Canonical SPDI:
- NC_000018.10:25219783:TCCA:TCCATCCA
- Gene:
- ZNF521 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCCATCCA=0./0
(
ALFA)
TCCA=0.000004/1
(TOPMED)
TCCA=0.000007/1
(GnomAD)
- HGVS:
13.
rs1491509921 has merged into rs78019673 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-,C,CCC,CCCC
[Show Flanks]
- Chromosome:
- 18:25283932
(GRCh38)
18:22863896
(GRCh37)
- Canonical SPDI:
- NC_000018.10:25283922:CCCCCCCCCCC:CCCCCCCCC,NC_000018.10:25283922:CCCCCCCCCCC:CCCCCCCCCC,NC_000018.10:25283922:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000018.10:25283922:CCCCCCCCCCC:CCCCCCCCCCCCC
- Gene:
- ZNF521 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCCCCCCC=0./0
(
ALFA)
- HGVS:
14.
rs1491507146 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 18:25351457
(GRCh38)
18:22931422
(GRCh37)
- Canonical SPDI:
- NC_000018.10:25351457::A
- Gene:
- ZNF521 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
15.
rs1491503650 has merged into rs36175281 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 18:25139383
(GRCh38)
18:22719347
(GRCh37)
- Canonical SPDI:
- NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25139372:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF521 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000018.10:g.25139383_25139402del, NC_000018.10:g.25139384_25139402del, NC_000018.10:g.25139386_25139402del, NC_000018.10:g.25139387_25139402del, NC_000018.10:g.25139388_25139402del, NC_000018.10:g.25139389_25139402del, NC_000018.10:g.25139390_25139402del, NC_000018.10:g.25139391_25139402del, NC_000018.10:g.25139392_25139402del, NC_000018.10:g.25139393_25139402del, NC_000018.10:g.25139394_25139402del, NC_000018.10:g.25139395_25139402del, NC_000018.10:g.25139396_25139402del, NC_000018.10:g.25139397_25139402del, NC_000018.10:g.25139398_25139402del, NC_000018.10:g.25139399_25139402del, NC_000018.10:g.25139400_25139402del, NC_000018.10:g.25139401_25139402del, NC_000018.10:g.25139402del, NC_000018.10:g.25139402dup, NC_000018.10:g.25139401_25139402dup, NC_000018.10:g.25139400_25139402dup, NC_000018.10:g.25139399_25139402dup, NC_000018.10:g.25139398_25139402dup, NC_000018.10:g.25139397_25139402dup, NC_000018.10:g.25139396_25139402dup, NC_000018.10:g.25139394_25139402dup, NC_000018.10:g.25139393_25139402dup, NC_000018.10:g.25139392_25139402dup, NC_000018.10:g.25139391_25139402dup, NC_000018.10:g.25139390_25139402dup, NC_000018.10:g.25139389_25139402dup, NC_000018.10:g.25139387_25139402dup, NC_000018.10:g.25139386_25139402dup, NC_000018.10:g.25139385_25139402dup, NC_000018.10:g.25139384_25139402dup, NC_000018.10:g.25139383_25139402dup, NC_000018.10:g.25139382_25139402dup, NC_000018.10:g.25139381_25139402dup, NC_000018.10:g.25139380_25139402dup, NC_000018.10:g.25139379_25139402dup, NC_000018.10:g.25139378_25139402dup, NC_000018.10:g.25139377_25139402dup, NC_000018.10:g.25139376_25139402dup, NC_000018.10:g.25139375_25139402dup, NC_000018.10:g.25139374_25139402dup, NC_000018.10:g.25139373_25139402dup, NC_000018.10:g.25139402_25139403insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.25139402_25139403insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.25139402_25139403insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.25139402_25139403insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.25139402_25139403insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.25139402_25139403insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.25139402_25139403insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.25139402_25139403insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.25139402_25139403insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.25139402_25139403insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.22719347_22719366del, NC_000018.9:g.22719348_22719366del, NC_000018.9:g.22719350_22719366del, NC_000018.9:g.22719351_22719366del, NC_000018.9:g.22719352_22719366del, NC_000018.9:g.22719353_22719366del, NC_000018.9:g.22719354_22719366del, NC_000018.9:g.22719355_22719366del, NC_000018.9:g.22719356_22719366del, NC_000018.9:g.22719357_22719366del, NC_000018.9:g.22719358_22719366del, NC_000018.9:g.22719359_22719366del, NC_000018.9:g.22719360_22719366del, NC_000018.9:g.22719361_22719366del, NC_000018.9:g.22719362_22719366del, NC_000018.9:g.22719363_22719366del, NC_000018.9:g.22719364_22719366del, NC_000018.9:g.22719365_22719366del, NC_000018.9:g.22719366del, NC_000018.9:g.22719366dup, NC_000018.9:g.22719365_22719366dup, NC_000018.9:g.22719364_22719366dup, NC_000018.9:g.22719363_22719366dup, NC_000018.9:g.22719362_22719366dup, NC_000018.9:g.22719361_22719366dup, NC_000018.9:g.22719360_22719366dup, NC_000018.9:g.22719358_22719366dup, NC_000018.9:g.22719357_22719366dup, NC_000018.9:g.22719356_22719366dup, NC_000018.9:g.22719355_22719366dup, NC_000018.9:g.22719354_22719366dup, NC_000018.9:g.22719353_22719366dup, NC_000018.9:g.22719351_22719366dup, NC_000018.9:g.22719350_22719366dup, NC_000018.9:g.22719349_22719366dup, NC_000018.9:g.22719348_22719366dup, NC_000018.9:g.22719347_22719366dup, NC_000018.9:g.22719346_22719366dup, NC_000018.9:g.22719345_22719366dup, NC_000018.9:g.22719344_22719366dup, NC_000018.9:g.22719343_22719366dup, NC_000018.9:g.22719342_22719366dup, NC_000018.9:g.22719341_22719366dup, NC_000018.9:g.22719340_22719366dup, NC_000018.9:g.22719339_22719366dup, NC_000018.9:g.22719338_22719366dup, NC_000018.9:g.22719337_22719366dup, NC_000018.9:g.22719366_22719367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.22719366_22719367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.22719366_22719367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.22719366_22719367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.22719366_22719367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.22719366_22719367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.22719366_22719367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.22719366_22719367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.22719366_22719367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.22719366_22719367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
16.
rs1491490414 has merged into rs796580178 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTATATATATGGTATATATATG>-,GTATATATATG,GTATATATATGGTATATATATGGTATATATATG
[Show Flanks]
- Chromosome:
- 18:25256021
(GRCh38)
18:22835985
(GRCh37)
- Canonical SPDI:
- NC_000018.10:25256010:TATATATATGGTATATATATGGTATATATATG:TATATATATG,NC_000018.10:25256010:TATATATATGGTATATATATGGTATATATATG:TATATATATGGTATATATATG,NC_000018.10:25256010:TATATATATGGTATATATATGGTATATATATG:TATATATATGGTATATATATGGTATATATATGGTATATATATG
- Gene:
- ZNF521 (Varview), LOC105372031 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATGGTATATATATGGTATATATATGGTATATATATG=0./0
(
ALFA)
TATATATATGG=0.00004/1
(TOMMO)
- HGVS:
17.
rs1491489026 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CA,CACA,CACACA,CACACACA
[Show Flanks]
- Chromosome:
- 18:25293345
(GRCh38)
18:22873310
(GRCh37)
- Canonical SPDI:
- NC_000018.10:25293345:ACACA:ACACACA,NC_000018.10:25293345:ACACA:ACACACACA,NC_000018.10:25293345:ACACA:ACACACACACA,NC_000018.10:25293345:ACACA:ACACACACACACA
- Gene:
- ZNF521 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACA=0./0
(
ALFA)
AC=0.00014/2
(TOMMO)
- HGVS:
18.
rs1491487557 has merged into rs55759335 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATATATATATA>-,TA,TATA,TATATATA,TATATATATA,TATATATATATATA,TATATATATATATATA
[Show Flanks]
- Chromosome:
- 18:25116876
(GRCh38)
18:22696840
(GRCh37)
- Canonical SPDI:
- NC_000018.10:25116871:TATATATATATATATA:TATA,NC_000018.10:25116871:TATATATATATATATA:TATATA,NC_000018.10:25116871:TATATATATATATATA:TATATATA,NC_000018.10:25116871:TATATATATATATATA:TATATATATATA,NC_000018.10:25116871:TATATATATATATATA:TATATATATATATA,NC_000018.10:25116871:TATATATATATATATA:TATATATATATATATATA,NC_000018.10:25116871:TATATATATATATATA:TATATATATATATATATATA
- Gene:
- ZNF521 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATATATATATA=0./0
(
ALFA)
-=0.0073/28
(ALSPAC)
- HGVS:
NC_000018.10:g.25116872TA[2], NC_000018.10:g.25116872TA[3], NC_000018.10:g.25116872TA[4], NC_000018.10:g.25116872TA[6], NC_000018.10:g.25116872TA[7], NC_000018.10:g.25116872TA[9], NC_000018.10:g.25116872TA[10], NC_000018.9:g.22696836TA[2], NC_000018.9:g.22696836TA[3], NC_000018.9:g.22696836TA[4], NC_000018.9:g.22696836TA[6], NC_000018.9:g.22696836TA[7], NC_000018.9:g.22696836TA[9], NC_000018.9:g.22696836TA[10]
19.
rs1491485946 has merged into rs59178760 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 18:25212522
(GRCh38)
18:22792486
(GRCh37)
- Canonical SPDI:
- NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:25212509:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF521 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000018.10:g.25212522_25212539del, NC_000018.10:g.25212524_25212539del, NC_000018.10:g.25212526_25212539del, NC_000018.10:g.25212527_25212539del, NC_000018.10:g.25212528_25212539del, NC_000018.10:g.25212529_25212539del, NC_000018.10:g.25212530_25212539del, NC_000018.10:g.25212531_25212539del, NC_000018.10:g.25212532_25212539del, NC_000018.10:g.25212533_25212539del, NC_000018.10:g.25212534_25212539del, NC_000018.10:g.25212535_25212539del, NC_000018.10:g.25212536_25212539del, NC_000018.10:g.25212537_25212539del, NC_000018.10:g.25212538_25212539del, NC_000018.10:g.25212539del, NC_000018.10:g.25212539dup, NC_000018.10:g.25212538_25212539dup, NC_000018.10:g.25212537_25212539dup, NC_000018.10:g.25212536_25212539dup, NC_000018.10:g.25212535_25212539dup, NC_000018.10:g.25212534_25212539dup, NC_000018.10:g.25212533_25212539dup, NC_000018.10:g.25212531_25212539dup, NC_000018.10:g.25212530_25212539dup, NC_000018.10:g.25212529_25212539dup, NC_000018.10:g.25212526_25212539dup, NC_000018.10:g.25212525_25212539dup, NC_000018.10:g.25212524_25212539dup, NC_000018.9:g.22792486_22792503del, NC_000018.9:g.22792488_22792503del, NC_000018.9:g.22792490_22792503del, NC_000018.9:g.22792491_22792503del, NC_000018.9:g.22792492_22792503del, NC_000018.9:g.22792493_22792503del, NC_000018.9:g.22792494_22792503del, NC_000018.9:g.22792495_22792503del, NC_000018.9:g.22792496_22792503del, NC_000018.9:g.22792497_22792503del, NC_000018.9:g.22792498_22792503del, NC_000018.9:g.22792499_22792503del, NC_000018.9:g.22792500_22792503del, NC_000018.9:g.22792501_22792503del, NC_000018.9:g.22792502_22792503del, NC_000018.9:g.22792503del, NC_000018.9:g.22792503dup, NC_000018.9:g.22792502_22792503dup, NC_000018.9:g.22792501_22792503dup, NC_000018.9:g.22792500_22792503dup, NC_000018.9:g.22792499_22792503dup, NC_000018.9:g.22792498_22792503dup, NC_000018.9:g.22792497_22792503dup, NC_000018.9:g.22792495_22792503dup, NC_000018.9:g.22792494_22792503dup, NC_000018.9:g.22792493_22792503dup, NC_000018.9:g.22792490_22792503dup, NC_000018.9:g.22792489_22792503dup, NC_000018.9:g.22792488_22792503dup
20.
rs1491485727 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AC>-
[Show Flanks]
- Chromosome:
- 18:25322553
(GRCh38)
18:22902517
(GRCh37)
- Canonical SPDI:
- NC_000018.10:25322552:AC:
- Gene:
- ZNF521 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000337/4
(
ALFA)
-=0.000425/7
(TOMMO)
-=0.000687/92
(GnomAD)
- HGVS: