Links from Gene
Items: 1 to 20 of 3112
3.
rs1490815883 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:84175110
(GRCh38)
15:84843862
(GRCh37)
- Canonical SPDI:
- NC_000015.10:84175109:G:A
- Gene:
- UBE2Q2L (Varview), LOC124903544 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.00034/4
(
ALFA)
A=0.00036/30
(GnomAD)
- HGVS:
6.
rs1490441760 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 15:84184096
(GRCh38)
15:84852848
(GRCh37)
- Canonical SPDI:
- NC_000015.10:84184095:A:G,NC_000015.10:84184095:A:T
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
G=0.000065/9
(GnomAD)
- HGVS:
9.
rs1489785303 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 15:84186083
(GRCh38)
15:84854835
(GRCh37)
- Canonical SPDI:
- NC_000015.10:84186082:G:A,NC_000015.10:84186082:G:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00005/2
(GnomAD)
A=0.00068/2
(KOREAN)
- HGVS:
10.
rs1489489178 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CAT>-
[Show Flanks]
- Chromosome:
- 15:84178391
(GRCh38)
15:84847143
(GRCh37)
- Canonical SPDI:
- NC_000015.10:84178390:CAT:
- Gene:
- UBE2Q2L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00319/34
(TOMMO)
- HGVS:
11.
rs1489365295 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:84174144
(GRCh38)
15:84842896
(GRCh37)
- Canonical SPDI:
- NC_000015.10:84174143:C:T
- Gene:
- UBE2Q2L (Varview), LOC124903544 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1489146416 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 15:84171427
(GRCh38)
15:84840179
(GRCh37)
- Canonical SPDI:
- NC_000015.10:84171426:T:A,NC_000015.10:84171426:T:C
- Gene:
- DNM1P41 (Varview), UBE2Q2L (Varview), LOC124903544 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00006/1
(TOMMO)
- HGVS:
13.
rs1489090800 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 15:84170289
(GRCh38)
15:84839041
(GRCh37)
- Canonical SPDI:
- NC_000015.10:84170288:G:C,NC_000015.10:84170288:G:T
- Gene:
- DNM1P41 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
C=0.00013/9
(GnomAD)
- HGVS:
17.
rs1488600782 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:84180700
(GRCh38)
15:84849452
(GRCh37)
- Canonical SPDI:
- NC_000015.10:84180699:C:T
- Gene:
- UBE2Q2L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.00008/1
(
ALFA)
T=0.00025/3
(GnomAD)
- HGVS:
18.
rs1488208514 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:84177999
(GRCh38)
15:84846751
(GRCh37)
- Canonical SPDI:
- NC_000015.10:84177998:T:C
- Gene:
- UBE2Q2L (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.00001/1
(GnomAD)
- HGVS: