Links from Gene
Items: 1 to 20 of 9812
1.
rs1491583968 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 16:4452109
(GRCh38)
16:4502110
(GRCh37)
- Canonical SPDI:
- NC_000016.10:4452107:TGT:T
- Gene:
- DNAJA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
3.
rs1491561083 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 16:4445926
(GRCh38)
16:4495927
(GRCh37)
- Canonical SPDI:
- NC_000016.10:4445924:TCT:T
- Gene:
- DNAJA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
-=0.00013/18
(GnomAD)
-=0.000283/5
(TOMMO)
- HGVS:
4.
rs1491223922 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TAG
[Show Flanks]
- Chromosome:
- 16:4452108
(GRCh38)
16:4502110
(GRCh37)
- Canonical SPDI:
- NC_000016.10:4452108:GTAG:GTAGTAG
- Gene:
- DNAJA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTAGTAG=0./0
(
ALFA)
GTA=0.000019/5
(TOPMED)
GTA=0.000021/3
(GnomAD)
- HGVS:
5.
rs1491103464 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 16:4444333
(GRCh38)
16:4494335
(GRCh37)
- Canonical SPDI:
- NC_000016.10:4444333:C:CC
- Gene:
- DNAJA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
6.
rs1491067814 has merged into rs368431722 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 16:4451906
(GRCh38)
16:4501907
(GRCh37)
- Canonical SPDI:
- NC_000016.10:4451896:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:4451896:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:4451896:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:4451896:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:4451896:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:4451896:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- DNAJA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.277/164
(NorthernSweden)
A=0.325/13
(GENOME_DK)
A=0.4778/2393
(1000Genomes)
- HGVS:
NC_000016.10:g.4451906_4451912del, NC_000016.10:g.4451909_4451912del, NC_000016.10:g.4451910_4451912del, NC_000016.10:g.4451911_4451912del, NC_000016.10:g.4451912del, NC_000016.10:g.4451912dup, NC_000016.9:g.4501907_4501913del, NC_000016.9:g.4501910_4501913del, NC_000016.9:g.4501911_4501913del, NC_000016.9:g.4501912_4501913del, NC_000016.9:g.4501913del, NC_000016.9:g.4501913dup, NG_029866.1:g.31102_31108del, NG_029866.1:g.31105_31108del, NG_029866.1:g.31106_31108del, NG_029866.1:g.31107_31108del, NG_029866.1:g.31108del, NG_029866.1:g.31108dup, NT_187608.1:g.154229_154235del, NT_187608.1:g.154232_154235del, NT_187608.1:g.154233_154235del, NT_187608.1:g.154234_154235del, NT_187608.1:g.154235del, NT_187608.1:g.154235dup
7.
rs1490997137 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:4451898
(GRCh38)
16:4501899
(GRCh37)
- Canonical SPDI:
- NC_000016.10:4451897:A:G
- Gene:
- DNAJA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00008/2
(GnomAD)
- HGVS:
8.
rs1490786290 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:4444585
(GRCh38)
16:4494586
(GRCh37)
- Canonical SPDI:
- NC_000016.10:4444584:C:T
- Gene:
- DNAJA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.00003/8
(TOPMED)
- HGVS:
9.
rs1490602057 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:4447435
(GRCh38)
16:4497436
(GRCh37)
- Canonical SPDI:
- NC_000016.10:4447434:C:T
- Gene:
- DNAJA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490550925 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 16:4446566
(GRCh38)
16:4496567
(GRCh37)
- Canonical SPDI:
- NC_000016.10:4446565:A:C
- Gene:
- DNAJA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490496954 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGG>-
[Show Flanks]
- Chromosome:
- 16:4430428
(GRCh38)
16:4480429
(GRCh37)
- Canonical SPDI:
- NC_000016.10:4430423:GTGGTGG:GTGG
- Gene:
- DNAJA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490491480 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:4432120
(GRCh38)
16:4482121
(GRCh37)
- Canonical SPDI:
- NC_000016.10:4432119:T:C
- Gene:
- DNAJA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.0002/1
(
ALFA)
C=0.0002/1
(Estonian)
- HGVS:
13.
rs1490458452 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 16:4439018
(GRCh38)
16:4489019
(GRCh37)
- Canonical SPDI:
- NC_000016.10:4439017:G:C,NC_000016.10:4439017:G:T
- Gene:
- DNAJA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
14.
rs1490432617 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:4439836
(GRCh38)
16:4489837
(GRCh37)
- Canonical SPDI:
- NC_000016.10:4439835:C:T
- Gene:
- DNAJA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
16.
rs1490219650 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:4433129
(GRCh38)
16:4483130
(GRCh37)
- Canonical SPDI:
- NC_000016.10:4433128:G:A
- Gene:
- DNAJA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
17.
rs1490166493 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 16:4431969
(GRCh38)
16:4481970
(GRCh37)
- Canonical SPDI:
- NC_000016.10:4431968:T:G
- Gene:
- DNAJA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490100924 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 16:4429834
(GRCh38)
16:4479835
(GRCh37)
- Canonical SPDI:
- NC_000016.10:4429833:C:A
- Gene:
- DNAJA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.0065/19
(KOREAN)
- HGVS:
19.
rs1490017227 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGACCAGCCTGG>-
[Show Flanks]
- Chromosome:
- 16:4452708
(GRCh38)
16:4502709
(GRCh37)
- Canonical SPDI:
- NC_000016.10:4452706:GAGACCAGCCTGG:G
- Gene:
- DNAJA3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS: