Links from Gene
Items: 1 to 20 of 2221
1.
rs1490296501 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:60152738
(GRCh38)
13:60726872
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60152737:T:C
- Gene:
- DIAPH3 (Varview), DIAPH3-AS2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
3.
rs1490174899 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:60144067
(GRCh38)
13:60718201
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60144066:C:T
- Gene:
- DIAPH3 (Varview), DIAPH3-AS2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
T=0.000312/2
(1000Genomes)
C=0.5/1
(SGDP_PRJ)
- HGVS:
4.
rs1490149045 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTTTTTTTTTTT>-
[Show Flanks]
- Chromosome:
- 13:60142923
(GRCh38)
13:60717057
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60142912:TTTTTTTTTTCTTTTTTTTTTT:TTTTTTTTTT
- Gene:
- DIAPH3 (Varview), DIAPH3-AS2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTTTTTTTT=0.000084/1
(
ALFA)
-=0.000076/10
(GnomAD)
- HGVS:
6.
rs1489272301 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:60153429
(GRCh38)
13:60727563
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60153428:C:T
- Gene:
- DIAPH3 (Varview), DIAPH3-AS2 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1489233348 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:60146191
(GRCh38)
13:60720325
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60146190:C:T
- Gene:
- DIAPH3 (Varview), DIAPH3-AS2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
8.
rs1489213104 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 13:60145622
(GRCh38)
13:60719756
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60145621:C:G,NC_000013.11:60145621:C:T
- Gene:
- DIAPH3 (Varview), DIAPH3-AS2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000057/8
(GnomAD)
- HGVS:
9.
rs1488204086 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:60150381
(GRCh38)
13:60724515
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60150380:G:A
- Gene:
- DIAPH3 (Varview), DIAPH3-AS2 (Varview)
- Functional Consequence:
- 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:
10.
rs1488043559 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:60146225
(GRCh38)
13:60720359
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60146224:G:A
- Gene:
- DIAPH3 (Varview), DIAPH3-AS2 (Varview)
- Functional Consequence:
- 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:
11.
rs1487235035 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 13:60143940
(GRCh38)
13:60718074
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60143939:T:G
- Gene:
- DIAPH3 (Varview), DIAPH3-AS2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
- HGVS:
12.
rs1487087853 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 13:60145811
(GRCh38)
13:60719945
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60145810:A:G,NC_000013.11:60145810:A:T
- Gene:
- DIAPH3 (Varview), DIAPH3-AS2 (Varview)
- Functional Consequence:
- 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:
13.
rs1487058099 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 13:60148692
(GRCh38)
13:60722826
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60148691:A:C
- Gene:
- DIAPH3 (Varview), DIAPH3-AS2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
14.
rs1486893047 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TAAGA>-
[Show Flanks]
- Chromosome:
- 13:60152619
(GRCh38)
13:60726753
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60152614:AAGATAAGA:AAGA
- Gene:
- DIAPH3 (Varview), DIAPH3-AS2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAGA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
15.
rs1486759540 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 13:60149581
(GRCh38)
13:60723715
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60149580:T:A
- Gene:
- DIAPH3 (Varview), DIAPH3-AS2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
16.
rs1486102669 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 13:60147037
(GRCh38)
13:60721171
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60147036:C:G,NC_000013.11:60147036:C:T
- Gene:
- DIAPH3 (Varview), DIAPH3-AS2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
18.
rs1485980520 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 13:60147959
(GRCh38)
13:60722093
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60147958:C:A
- Gene:
- DIAPH3 (Varview), DIAPH3-AS2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1485617507 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:60147328
(GRCh38)
13:60721462
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60147327:G:A
- Gene:
- DIAPH3 (Varview), DIAPH3-AS2 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.002/9
(
ALFA)
A=0.0018/8
(Estonian)
- HGVS:
20.
rs1485361471 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:60153187
(GRCh38)
13:60727321
(GRCh37)
- Canonical SPDI:
- NC_000013.11:60153186:G:A
- Gene:
- DIAPH3 (Varview), DIAPH3-AS2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS: