Links from Gene
Items: 1 to 20 of 691
1.
rs1490685176 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 9:128245205
(GRCh38)
9:131007484
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128245204:C:A,NC_000009.12:128245204:C:T
- Gene:
- DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000156/1
(1000Genomes)
A=0.000249/66
(TOPMED)
- HGVS:
2.
rs1490631569 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:128246082
(GRCh38)
9:131008361
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128246081:T:C
- Gene:
- DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
4.
rs1488255689 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:128245130
(GRCh38)
9:131007409
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128245129:T:C
- Gene:
- DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
5.
rs1482427938 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:128244698
(GRCh38)
9:131006977
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128244697:C:A
- Gene:
- DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
6.
rs1481763784 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:128245970
(GRCh38)
9:131008249
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128245969:C:T
- Gene:
- DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
8.
rs1480860838 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 9:128244949
(GRCh38)
9:131007229
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128244949:CCCC:CCCCC
- Gene:
- DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1480814465 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 9:128246004
(GRCh38)
9:131008284
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128246004::A
- Gene:
- DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1480209190 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:128246075
(GRCh38)
9:131008354
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128246074:C:T
- Gene:
- DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000019/5
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
11.
rs1479781695 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:128246812
(GRCh38)
9:131009091
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128246811:C:T
- Gene:
- DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
- HGVS:
12.
rs1478964951 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:128244844
(GRCh38)
9:131007123
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128244843:C:T
- Gene:
- DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
13.
rs1478581992 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 9:128246546
(GRCh38)
9:131008825
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128246545:C:G
- Gene:
- DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000035/1
(TOMMO)
G=0.000342/1
(KOREAN)
- HGVS:
15.
rs1476143432 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 9:128245558
(GRCh38)
9:131007837
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128245557:C:G
- Gene:
- DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1475916602 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:128245109
(GRCh38)
9:131007388
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128245108:A:G
- Gene:
- DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000084/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1473671962 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:128244514
(GRCh38)
9:131006793
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128244513:C:T
- Gene:
- DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
18.
rs1472871912 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 9:128246321
(GRCh38)
9:131008600
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128246320:G:A,NC_000009.12:128246320:G:C
- Gene:
- DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,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.
rs1472038231 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:128244942
(GRCh38)
9:131007221
(GRCh37)
- Canonical SPDI:
- NC_000009.12:128244941:C:A
- Gene:
- DNM1 (Varview), MIR199B (Varview), MIR3154 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS: