Links from Gene
Items: 1 to 20 of 1000
1.
rs1491586415 has merged into rs200054294 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT
[Show Flanks]
- Chromosome:
- 19:21941584
(GRCh38)
19:22124386
(GRCh37)
- Canonical SPDI:
- NC_000019.10:21941574:TTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:21941574:TTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:21941574:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:21941574:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:21941574:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:21941574:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:21941574:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- ZNF208 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.01297/50
(ALSPAC)
T=0.15256/182
(1000Genomes)
- HGVS:
NC_000019.10:g.21941584_21941586del, NC_000019.10:g.21941585_21941586del, NC_000019.10:g.21941586del, NC_000019.10:g.21941586dup, NC_000019.10:g.21941585_21941586dup, NC_000019.10:g.21941584_21941586dup, NC_000019.10:g.21941582_21941586dup, NC_000019.9:g.22124386_22124388del, NC_000019.9:g.22124387_22124388del, NC_000019.9:g.22124388del, NC_000019.9:g.22124388dup, NC_000019.9:g.22124387_22124388dup, NC_000019.9:g.22124386_22124388dup, NC_000019.9:g.22124384_22124388dup, NG_024246.1:g.865_867del, NG_024246.1:g.866_867del, NG_024246.1:g.867del, NG_024246.1:g.867dup, NG_024246.1:g.866_867dup, NG_024246.1:g.865_867dup, NG_024246.1:g.863_867dup
2.
rs1491573728 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CT
[Show Flanks]
- Chromosome:
- 19:21956020
(GRCh38)
19:22138823
(GRCh37)
- Canonical SPDI:
- NC_000019.10:21956020::CT
- Gene:
- ZNF208 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
CT=0.00012/2
(TOMMO)
CT=0.00055/1
(Korea1K)
- HGVS:
3.
rs1491524910 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 19:22001890
(GRCh38)
19:22184693
(GRCh37)
- Canonical SPDI:
- NC_000019.10:22001890::T
- Gene:
- ZNF208 (Varview), LOC124904672 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00556/66
(
ALFA)
T=0.00063/9
(TOMMO)
T=0.00195/3
(Korea1K)
T=0.00617/3
(NorthernSweden)
T=0.05487/867
(GnomAD)
- HGVS:
4.
rs1491477892 has merged into rs58769307 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:22007515
(GRCh38)
19:22190317
(GRCh37)
- Canonical SPDI:
- NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF208 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.22007515_22007530del, NC_000019.10:g.22007517_22007530del, NC_000019.10:g.22007518_22007530del, NC_000019.10:g.22007519_22007530del, NC_000019.10:g.22007520_22007530del, NC_000019.10:g.22007521_22007530del, NC_000019.10:g.22007522_22007530del, NC_000019.10:g.22007523_22007530del, NC_000019.10:g.22007524_22007530del, NC_000019.10:g.22007525_22007530del, NC_000019.10:g.22007526_22007530del, NC_000019.10:g.22007527_22007530del, NC_000019.10:g.22007528_22007530del, NC_000019.10:g.22007529_22007530del, NC_000019.10:g.22007530del, NC_000019.10:g.22007530dup, NC_000019.10:g.22007529_22007530dup, NC_000019.10:g.22007528_22007530dup, NC_000019.10:g.22007527_22007530dup, NC_000019.10:g.22007526_22007530dup, NC_000019.10:g.22007525_22007530dup, NC_000019.10:g.22007524_22007530dup, NC_000019.10:g.22007523_22007530dup, NC_000019.10:g.22007517_22007530dup, NC_000019.10:g.22007510_22007530dup, NC_000019.10:g.22007530_22007531insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.22007530_22007531insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.22007530_22007531insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.22007530_22007531insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.22190317_22190332del, NC_000019.9:g.22190319_22190332del, NC_000019.9:g.22190320_22190332del, NC_000019.9:g.22190321_22190332del, NC_000019.9:g.22190322_22190332del, NC_000019.9:g.22190323_22190332del, NC_000019.9:g.22190324_22190332del, NC_000019.9:g.22190325_22190332del, NC_000019.9:g.22190326_22190332del, NC_000019.9:g.22190327_22190332del, NC_000019.9:g.22190328_22190332del, NC_000019.9:g.22190329_22190332del, NC_000019.9:g.22190330_22190332del, NC_000019.9:g.22190331_22190332del, NC_000019.9:g.22190332del, NC_000019.9:g.22190332dup, NC_000019.9:g.22190331_22190332dup, NC_000019.9:g.22190330_22190332dup, NC_000019.9:g.22190329_22190332dup, NC_000019.9:g.22190328_22190332dup, NC_000019.9:g.22190327_22190332dup, NC_000019.9:g.22190326_22190332dup, NC_000019.9:g.22190325_22190332dup, NC_000019.9:g.22190319_22190332dup, NC_000019.9:g.22190312_22190332dup, NC_000019.9:g.22190332_22190333insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.22190332_22190333insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.22190332_22190333insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.22190332_22190333insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
9.
rs1491323376 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 19:21975824
(GRCh38)
19:22158627
(GRCh37)
- Canonical SPDI:
- NC_000019.10:21975824::G
- Gene:
- ZNF208 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00053/15
(GnomAD)
G=0.00168/1
(NorthernSweden)
- HGVS:
12.
rs1491202752 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 19:22007505
(GRCh38)
19:22190307
(GRCh37)
- Canonical SPDI:
- NC_000019.10:22007504:CA:
- Gene:
- ZNF208 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.01366/162
(
ALFA)
-=0.00364/101
(TOMMO)
- HGVS:
13.
rs1491192197 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,T,TT,TTAT,TTATTAT,TTATTATTAT,TTATTATTATTAT,TTATTATTATTATTAT,TTATTATTATTATTATTAT,TTATTATTATTATTATTATTAT,TTATTATTATTATTATTATTATTAT
[Show Flanks]
- Chromosome:
- 19:22011777
(GRCh38)
19:22194580
(GRCh37)
- Canonical SPDI:
- NC_000019.10:22011777::C,NC_000019.10:22011777::T,NC_000019.10:22011777::TT,NC_000019.10:22011777::TTAT,NC_000019.10:22011777::TTATTAT,NC_000019.10:22011777::TTATTATTAT,NC_000019.10:22011777::TTATTATTATTAT,NC_000019.10:22011777::TTATTATTATTATTAT,NC_000019.10:22011777::TTATTATTATTATTATTAT,NC_000019.10:22011777::TTATTATTATTATTATTATTAT,NC_000019.10:22011777::TTATTATTATTATTATTATTATTAT
- Gene:
- ZNF208 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTAT=0./0
(
ALFA)
TT=0.00187/12
(1000Genomes)
- HGVS:
NC_000019.10:g.22011777_22011778insC, NC_000019.10:g.22011777_22011778insT, NC_000019.10:g.22011777_22011778insTT, NC_000019.10:g.22011777_22011778insTTAT, NC_000019.10:g.22011777_22011778insTTATTAT, NC_000019.10:g.22011777_22011778insTTATTATTAT, NC_000019.10:g.22011777_22011778insTTATTATTATTAT, NC_000019.10:g.22011777_22011778insTTATTATTATTATTAT, NC_000019.10:g.22011777_22011778insTTATTATTATTATTATTAT, NC_000019.10:g.22011777_22011778insTTATTATTATTATTATTATTAT, NC_000019.10:g.22011777_22011778insTTATTATTATTATTATTATTATTAT, NC_000019.9:g.22194579_22194580insC, NC_000019.9:g.22194579_22194580insT, NC_000019.9:g.22194579_22194580insTT, NC_000019.9:g.22194579_22194580insTTAT, NC_000019.9:g.22194579_22194580insTTATTAT, NC_000019.9:g.22194579_22194580insTTATTATTAT, NC_000019.9:g.22194579_22194580insTTATTATTATTAT, NC_000019.9:g.22194579_22194580insTTATTATTATTATTAT, NC_000019.9:g.22194579_22194580insTTATTATTATTATTATTAT, NC_000019.9:g.22194579_22194580insTTATTATTATTATTATTATTAT, NC_000019.9:g.22194579_22194580insTTATTATTATTATTATTATTATTAT
14.
rs1491181998 has merged into rs58769307 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:22007515
(GRCh38)
19:22190317
(GRCh37)
- Canonical SPDI:
- NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22007505:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF208 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.22007515_22007530del, NC_000019.10:g.22007517_22007530del, NC_000019.10:g.22007518_22007530del, NC_000019.10:g.22007519_22007530del, NC_000019.10:g.22007520_22007530del, NC_000019.10:g.22007521_22007530del, NC_000019.10:g.22007522_22007530del, NC_000019.10:g.22007523_22007530del, NC_000019.10:g.22007524_22007530del, NC_000019.10:g.22007525_22007530del, NC_000019.10:g.22007526_22007530del, NC_000019.10:g.22007527_22007530del, NC_000019.10:g.22007528_22007530del, NC_000019.10:g.22007529_22007530del, NC_000019.10:g.22007530del, NC_000019.10:g.22007530dup, NC_000019.10:g.22007529_22007530dup, NC_000019.10:g.22007528_22007530dup, NC_000019.10:g.22007527_22007530dup, NC_000019.10:g.22007526_22007530dup, NC_000019.10:g.22007525_22007530dup, NC_000019.10:g.22007524_22007530dup, NC_000019.10:g.22007523_22007530dup, NC_000019.10:g.22007517_22007530dup, NC_000019.10:g.22007510_22007530dup, NC_000019.10:g.22007530_22007531insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.22007530_22007531insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.22007530_22007531insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.22007530_22007531insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.22190317_22190332del, NC_000019.9:g.22190319_22190332del, NC_000019.9:g.22190320_22190332del, NC_000019.9:g.22190321_22190332del, NC_000019.9:g.22190322_22190332del, NC_000019.9:g.22190323_22190332del, NC_000019.9:g.22190324_22190332del, NC_000019.9:g.22190325_22190332del, NC_000019.9:g.22190326_22190332del, NC_000019.9:g.22190327_22190332del, NC_000019.9:g.22190328_22190332del, NC_000019.9:g.22190329_22190332del, NC_000019.9:g.22190330_22190332del, NC_000019.9:g.22190331_22190332del, NC_000019.9:g.22190332del, NC_000019.9:g.22190332dup, NC_000019.9:g.22190331_22190332dup, NC_000019.9:g.22190330_22190332dup, NC_000019.9:g.22190329_22190332dup, NC_000019.9:g.22190328_22190332dup, NC_000019.9:g.22190327_22190332dup, NC_000019.9:g.22190326_22190332dup, NC_000019.9:g.22190325_22190332dup, NC_000019.9:g.22190319_22190332dup, NC_000019.9:g.22190312_22190332dup, NC_000019.9:g.22190332_22190333insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.22190332_22190333insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.22190332_22190333insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.22190332_22190333insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
15.
rs1491176485 has merged into rs547717166 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-,CACA
[Show Flanks]
- Chromosome:
- 19:21975911
(GRCh38)
19:22158713
(GRCh37)
- Canonical SPDI:
- NC_000019.10:21975909:ACA:A,NC_000019.10:21975909:ACA:ACACA
- Gene:
- ZNF208 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.04713/559
(
ALFA)
-=0.00081/13
(TOMMO)
-=0.0308/17
(NorthernSweden)
-=0.05918/296
(1000Genomes)
-=0.0754/7277
(GnomAD)
AC=0.43888/438
(GoNL)
- HGVS:
16.
rs1491143293 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 19:22011778
(GRCh38)
19:22194580
(GRCh37)
- Canonical SPDI:
- NC_000019.10:22011776:AAA:A
- Gene:
- ZNF208 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.00021/17
(GnomAD)
- HGVS:
17.
rs1491086280 has merged into rs34234040 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:21982366
(GRCh38)
19:22165168
(GRCh37)
- Canonical SPDI:
- NC_000019.10:21982357:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:21982357:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:21982357:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:21982357:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:21982357:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:21982357:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:21982357:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:21982357:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:21982357:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21982357:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21982357:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21982357:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:21982357:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF208 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.4529/2268
(1000Genomes)
- HGVS:
NC_000019.10:g.21982366_21982375del, NC_000019.10:g.21982371_21982375del, NC_000019.10:g.21982372_21982375del, NC_000019.10:g.21982373_21982375del, NC_000019.10:g.21982374_21982375del, NC_000019.10:g.21982375del, NC_000019.10:g.21982375dup, NC_000019.10:g.21982374_21982375dup, NC_000019.10:g.21982373_21982375dup, NC_000019.10:g.21982372_21982375dup, NC_000019.10:g.21982370_21982375dup, NC_000019.10:g.21982369_21982375dup, NC_000019.10:g.21982367_21982375dup, NC_000019.9:g.22165168_22165177del, NC_000019.9:g.22165173_22165177del, NC_000019.9:g.22165174_22165177del, NC_000019.9:g.22165175_22165177del, NC_000019.9:g.22165176_22165177del, NC_000019.9:g.22165177del, NC_000019.9:g.22165177dup, NC_000019.9:g.22165176_22165177dup, NC_000019.9:g.22165175_22165177dup, NC_000019.9:g.22165174_22165177dup, NC_000019.9:g.22165172_22165177dup, NC_000019.9:g.22165171_22165177dup, NC_000019.9:g.22165169_22165177dup
18.
rs1491051627 has merged into rs139821713 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:22008020
(GRCh38)
19:22190822
(GRCh37)
- Canonical SPDI:
- NC_000019.10:22008003:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:22008003:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:22008003:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:22008003:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:22008003:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22008003:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22008003:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22008003:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22008003:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22008003:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22008003:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22008003:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF208 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.2554/1279
(1000Genomes)
- HGVS:
NC_000019.10:g.22008020_22008021del, NC_000019.10:g.22008021del, NC_000019.10:g.22008021dup, NC_000019.10:g.22008020_22008021dup, NC_000019.10:g.22008019_22008021dup, NC_000019.10:g.22008018_22008021dup, NC_000019.10:g.22008017_22008021dup, NC_000019.10:g.22008016_22008021dup, NC_000019.10:g.22008015_22008021dup, NC_000019.10:g.22008013_22008021dup, NC_000019.10:g.22008012_22008021dup, NC_000019.10:g.22008011_22008021dup, NC_000019.9:g.22190822_22190823del, NC_000019.9:g.22190823del, NC_000019.9:g.22190823dup, NC_000019.9:g.22190822_22190823dup, NC_000019.9:g.22190821_22190823dup, NC_000019.9:g.22190820_22190823dup, NC_000019.9:g.22190819_22190823dup, NC_000019.9:g.22190818_22190823dup, NC_000019.9:g.22190817_22190823dup, NC_000019.9:g.22190815_22190823dup, NC_000019.9:g.22190814_22190823dup, NC_000019.9:g.22190813_22190823dup
19.
rs1491038965 has merged into rs71180503 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAA>-,AA,AAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:22008308
(GRCh38)
19:22191110
(GRCh37)
- Canonical SPDI:
- NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:22008302:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF208 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.22008308_22008316del, NC_000019.10:g.22008310_22008316del, NC_000019.10:g.22008311_22008316del, NC_000019.10:g.22008314_22008316del, NC_000019.10:g.22008315_22008316del, NC_000019.10:g.22008316del, NC_000019.10:g.22008316dup, NC_000019.10:g.22008315_22008316dup, NC_000019.10:g.22008314_22008316dup, NC_000019.10:g.22008313_22008316dup, NC_000019.10:g.22008312_22008316dup, NC_000019.10:g.22008311_22008316dup, NC_000019.10:g.22008310_22008316dup, NC_000019.10:g.22008309_22008316dup, NC_000019.10:g.22008308_22008316dup, NC_000019.10:g.22008307_22008316dup, NC_000019.10:g.22008303_22008316dup, NC_000019.9:g.22191110_22191118del, NC_000019.9:g.22191112_22191118del, NC_000019.9:g.22191113_22191118del, NC_000019.9:g.22191116_22191118del, NC_000019.9:g.22191117_22191118del, NC_000019.9:g.22191118del, NC_000019.9:g.22191118dup, NC_000019.9:g.22191117_22191118dup, NC_000019.9:g.22191116_22191118dup, NC_000019.9:g.22191115_22191118dup, NC_000019.9:g.22191114_22191118dup, NC_000019.9:g.22191113_22191118dup, NC_000019.9:g.22191112_22191118dup, NC_000019.9:g.22191111_22191118dup, NC_000019.9:g.22191110_22191118dup, NC_000019.9:g.22191109_22191118dup, NC_000019.9:g.22191105_22191118dup
20.
rs1491020313 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 19:22009764
(GRCh38)
19:22192566
(GRCh37)
- Canonical SPDI:
- NC_000019.10:22009763:AT:
- Gene:
- ZNF208 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000029/4
(GnomAD)
- HGVS: