Links from Gene
Items: 1 to 20 of 4876
1.
rs1490988155 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 19:14517515
(GRCh38)
19:14628327
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14517514:G:A,NC_000019.10:14517514:G:C,NC_000019.10:14517514:G:T
- Gene:
- DNAJB1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
2.
rs1490644121 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AGACCCTGT>-
[Show Flanks]
- Chromosome:
- 19:14524509
(GRCh38)
19:14635321
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14524508:AGACCCTGT:
- Gene:
- DNAJB1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490587560 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:14523498
(GRCh38)
19:14634310
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14523497:G:C
- Gene:
- DNAJB1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
4.
rs1490540572 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 19:14514431
(GRCh38)
19:14625243
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14514430:G:A,NC_000019.10:14514430:G:C
- Gene:
- DNAJB1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490384264 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:14530356
(GRCh38)
19:14641168
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14530355:C:T
- Gene:
- DNAJB1 (Varview), TECR (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000147/39
(TOPMED)
T=0.000299/42
(GnomAD)
- HGVS:
6.
rs1490221552 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:14530796
(GRCh38)
19:14641608
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14530795:T:G
- Gene:
- DNAJB1 (Varview), TECR (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490195444 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:14518226
(GRCh38)
19:14629038
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14518225:C:T
- Gene:
- DNAJB1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490005220 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 19:14517971
(GRCh38)
19:14628783
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14517970:CC:C
- Gene:
- DNAJB1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
9.
rs1489744528 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:14523922
(GRCh38)
19:14634734
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14523921:C:G
- Gene:
- DNAJB1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
10.
rs1489656917 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 19:14515147
(GRCh38)
19:14625959
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14515146:T:A,NC_000019.10:14515146:T:C
- Gene:
- DNAJB1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
NC_000019.10:g.14515147T>A, NC_000019.10:g.14515147T>C, NC_000019.9:g.14625959T>A, NC_000019.9:g.14625959T>C, XM_011527956.4:c.*793A>T, XM_011527956.4:c.*793A>G, XM_011527956.3:c.*793A>T, XM_011527956.3:c.*793A>G, XM_011527956.2:c.*793A>T, XM_011527956.2:c.*793A>G, XM_011527956.1:c.*793A>T, XM_011527956.1:c.*793A>G, NM_006145.3:c.*793A>T, NM_006145.3:c.*793A>G, NM_006145.2:c.*793A>T, NM_006145.2:c.*793A>G, NM_006145.1:c.*793A>T, NM_006145.1:c.*793A>G, XM_006722733.3:c.*793A>T, XM_006722733.3:c.*793A>G, XM_006722733.2:c.*793A>T, XM_006722733.2:c.*793A>G, XM_006722733.1:c.*793A>T, XM_006722733.1:c.*793A>G, NM_001300914.2:c.*793A>T, NM_001300914.2:c.*793A>G, NM_001300914.1:c.*793A>T, NM_001300914.1:c.*793A>G, NM_001313964.2:c.*793A>T, NM_001313964.2:c.*793A>G, NM_001313964.1:c.*793A>T, NM_001313964.1:c.*793A>G, XM_047438745.1:c.*793A>T, XM_047438745.1:c.*793A>G, XM_047438746.1:c.*793A>T, XM_047438746.1:c.*793A>G
11.
rs1489655891 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:14527969
(GRCh38)
19:14638781
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14527968:C:A
- Gene:
- DNAJB1 (Varview), TECR (Varview), MIR639 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
12.
rs1489450502 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 19:14525051
(GRCh38)
19:14635863
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14525050:T:
- Gene:
- DNAJB1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
13.
rs1489399844 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:14523956
(GRCh38)
19:14634768
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14523955:C:G
- Gene:
- DNAJB1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1489328121 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:14515803
(GRCh38)
19:14626615
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14515802:T:C
- Gene:
- DNAJB1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000019.10:g.14515803T>C, NC_000019.9:g.14626615T>C, XM_011527956.4:c.*137A>G, XM_011527956.3:c.*137A>G, XM_011527956.2:c.*137A>G, XM_011527956.1:c.*137A>G, NM_006145.3:c.*137A>G, NM_006145.2:c.*137A>G, NM_006145.1:c.*137A>G, XM_006722733.3:c.*137A>G, XM_006722733.2:c.*137A>G, XM_006722733.1:c.*137A>G, NM_001300914.2:c.*137A>G, NM_001300914.1:c.*137A>G, NM_001313964.2:c.*137A>G, NM_001313964.1:c.*137A>G, XM_047438745.1:c.*137A>G, XM_047438746.1:c.*137A>G
15.
rs1489230208 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 19:14528590
(GRCh38)
19:14639402
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14528589:G:
- Gene:
- DNAJB1 (Varview), TECR (Varview), MIR639 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
- HGVS:
16.
rs1489180176 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:14527684
(GRCh38)
19:14638496
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14527683:C:T
- Gene:
- DNAJB1 (Varview), TECR (Varview), MIR639 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1489074699 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:14516248
(GRCh38)
19:14627060
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14516247:G:A
- Gene:
- DNAJB1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1488908621 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:14529014
(GRCh38)
19:14639826
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14529013:G:A
- Gene:
- DNAJB1 (Varview), TECR (Varview), MIR639 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1488753876 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:14530955
(GRCh38)
19:14641767
(GRCh37)
- Canonical SPDI:
- NC_000019.10:14530954:C:T
- Gene:
- DNAJB1 (Varview), TECR (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000026/7
(TOPMED)
T=0.000156/1
(1000Genomes)
- HGVS: