Links from Gene
Items: 1 to 20 of 7252
3.
rs1491369554 has merged into rs35562523 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:17060240
(GRCh38)
19:17171050
(GRCh37)
- Canonical SPDI:
- NC_000019.10:17060225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:17060225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:17060225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:17060225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:17060225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:17060225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17060225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17060225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17060225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17060225:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- HAUS8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000019.10:g.17060240_17060247del, NC_000019.10:g.17060243_17060247del, NC_000019.10:g.17060244_17060247del, NC_000019.10:g.17060245_17060247del, NC_000019.10:g.17060246_17060247del, NC_000019.10:g.17060247del, NC_000019.10:g.17060247dup, NC_000019.10:g.17060246_17060247dup, NC_000019.10:g.17060245_17060247dup, NC_000019.10:g.17060244_17060247dup, NC_000019.9:g.17171050_17171057del, NC_000019.9:g.17171053_17171057del, NC_000019.9:g.17171054_17171057del, NC_000019.9:g.17171055_17171057del, NC_000019.9:g.17171056_17171057del, NC_000019.9:g.17171057del, NC_000019.9:g.17171057dup, NC_000019.9:g.17171056_17171057dup, NC_000019.9:g.17171055_17171057dup, NC_000019.9:g.17171054_17171057dup
4.
rs1491358150 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 19:17068099
(GRCh38)
19:17178909
(GRCh37)
- Canonical SPDI:
- NC_000019.10:17068097:TCT:T
- Gene:
- HAUS8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000084/1
(
ALFA)
-=0.000066/9
(GnomAD)
- HGVS:
5.
rs1491274170 has merged into rs11315045 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:17055350
(GRCh38)
19:17166160
(GRCh37)
- Canonical SPDI:
- NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:17055339:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- HAUS8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.17055350_17055362del, NC_000019.10:g.17055351_17055362del, NC_000019.10:g.17055352_17055362del, NC_000019.10:g.17055353_17055362del, NC_000019.10:g.17055354_17055362del, NC_000019.10:g.17055355_17055362del, NC_000019.10:g.17055357_17055362del, NC_000019.10:g.17055358_17055362del, NC_000019.10:g.17055359_17055362del, NC_000019.10:g.17055360_17055362del, NC_000019.10:g.17055361_17055362del, NC_000019.10:g.17055362del, NC_000019.10:g.17055362dup, NC_000019.10:g.17055361_17055362dup, NC_000019.10:g.17055360_17055362dup, NC_000019.10:g.17055359_17055362dup, NC_000019.10:g.17055358_17055362dup, NC_000019.10:g.17055357_17055362dup, NC_000019.10:g.17055356_17055362dup, NC_000019.10:g.17055355_17055362dup, NC_000019.10:g.17055349_17055362dup, NC_000019.9:g.17166160_17166172del, NC_000019.9:g.17166161_17166172del, NC_000019.9:g.17166162_17166172del, NC_000019.9:g.17166163_17166172del, NC_000019.9:g.17166164_17166172del, NC_000019.9:g.17166165_17166172del, NC_000019.9:g.17166167_17166172del, NC_000019.9:g.17166168_17166172del, NC_000019.9:g.17166169_17166172del, NC_000019.9:g.17166170_17166172del, NC_000019.9:g.17166171_17166172del, NC_000019.9:g.17166172del, NC_000019.9:g.17166172dup, NC_000019.9:g.17166171_17166172dup, NC_000019.9:g.17166170_17166172dup, NC_000019.9:g.17166169_17166172dup, NC_000019.9:g.17166168_17166172dup, NC_000019.9:g.17166167_17166172dup, NC_000019.9:g.17166166_17166172dup, NC_000019.9:g.17166165_17166172dup, NC_000019.9:g.17166159_17166172dup
7.
rs1491103600 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 19:17072338
(GRCh38)
19:17183148
(GRCh37)
- Canonical SPDI:
- NC_000019.10:17072337:CT:
- Gene:
- HAUS8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000094/11
(GnomAD)
- HGVS:
8.
rs1491068555 has merged into rs61226830 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 19:17065984
(GRCh38)
19:17176794
(GRCh37)
- Canonical SPDI:
- NC_000019.10:17065972:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:17065972:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:17065972:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:17065972:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:17065972:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:17065972:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- HAUS8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
A=0.3956/1981
(1000Genomes)
- HGVS:
NC_000019.10:g.17065984_17065986del, NC_000019.10:g.17065985_17065986del, NC_000019.10:g.17065986del, NC_000019.10:g.17065986dup, NC_000019.10:g.17065985_17065986dup, NC_000019.10:g.17065984_17065986dup, NC_000019.9:g.17176794_17176796del, NC_000019.9:g.17176795_17176796del, NC_000019.9:g.17176796del, NC_000019.9:g.17176796dup, NC_000019.9:g.17176795_17176796dup, NC_000019.9:g.17176794_17176796dup
9.
rs1490950563 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:17056708
(GRCh38)
19:17167518
(GRCh37)
- Canonical SPDI:
- NC_000019.10:17056707:A:G
- Gene:
- HAUS8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490689702 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 19:17060104
(GRCh38)
19:17170914
(GRCh37)
- Canonical SPDI:
- NC_000019.10:17060103:A:T
- Gene:
- HAUS8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
T=0.000008/2
(GnomAD_exomes)
- HGVS:
12.
rs1490662164 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:17064880
(GRCh38)
19:17175690
(GRCh37)
- Canonical SPDI:
- NC_000019.10:17064879:C:T
- Gene:
- HAUS8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490613877 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:17055673
(GRCh38)
19:17166483
(GRCh37)
- Canonical SPDI:
- NC_000019.10:17055672:A:G
- Gene:
- HAUS8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
14.
rs1490476796 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 19:17072927
(GRCh38)
19:17183737
(GRCh37)
- Canonical SPDI:
- NC_000019.10:17072926:G:A,NC_000019.10:17072926:G:C
- Gene:
- HAUS8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1490336463 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 19:17063872
(GRCh38)
19:17174682
(GRCh37)
- Canonical SPDI:
- NC_000019.10:17063871:A:T
- Gene:
- HAUS8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490227321 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:17051146
(GRCh38)
19:17161956
(GRCh37)
- Canonical SPDI:
- NC_000019.10:17051145:G:A
- Gene:
- HAUS8 (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:
17.
rs1490223941 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:17064913
(GRCh38)
19:17175723
(GRCh37)
- Canonical SPDI:
- NC_000019.10:17064912:A:G
- Gene:
- HAUS8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490205871 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:17071088
(GRCh38)
19:17181898
(GRCh37)
- Canonical SPDI:
- NC_000019.10:17071087:T:G
- Gene:
- HAUS8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.011/32
(KOREAN)
- HGVS:
19.
rs1489939564 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:17057287
(GRCh38)
19:17168097
(GRCh37)
- Canonical SPDI:
- NC_000019.10:17057286:T:C
- Gene:
- HAUS8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
20.
rs1489845550 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:17064358
(GRCh38)
19:17175168
(GRCh37)
- Canonical SPDI:
- NC_000019.10:17064357:T:G
- Gene:
- HAUS8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS: