Links from Gene
Items: 1 to 20 of 1000
1.
rs1491191795 has merged into rs71620767 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 3:23200155
(GRCh38)
3:23241646
(GRCh37)
- Canonical SPDI:
- NC_000003.12:23200154:TTTTTTT:TTTTTT,NC_000003.12:23200154:TTTTTTT:TTTTTTTT
- Gene:
- UBE2E2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
3.
rs1490090431 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 3:23194591
(GRCh38)
3:23236082
(GRCh37)
- Canonical SPDI:
- NC_000003.12:23194590:C:A,NC_000003.12:23194590:C:T
- Gene:
- UBE2E2-DT (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
4.
rs1489999576 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 3:23196957
(GRCh38)
3:23238448
(GRCh37)
- Canonical SPDI:
- NC_000003.12:23196956:T:G
- Gene:
- UBE2E2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1489654749 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 3:23203541
(GRCh38)
3:23245032
(GRCh37)
- Canonical SPDI:
- NC_000003.12:23203540:A:C,NC_000003.12:23203540:A:G
- Gene:
- UBE2E2 (Varview), UBE2E2-DT (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00017/2
(
ALFA)
C=0.04216/122
(KOREAN)
- HGVS:
6.
rs1489340588 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:23203904
(GRCh38)
3:23245395
(GRCh37)
- Canonical SPDI:
- NC_000003.12:23203903:C:T
- Gene:
- UBE2E2 (Varview), UBE2E2-DT (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
7.
rs1489044389 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:23200780
(GRCh38)
3:23242271
(GRCh37)
- Canonical SPDI:
- NC_000003.12:23200779:G:A
- Gene:
- UBE2E2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000214/3
(
ALFA)
A=0.000026/7
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
8.
rs1488885755 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 3:23198694
(GRCh38)
3:23240185
(GRCh37)
- Canonical SPDI:
- NC_000003.12:23198693:C:A,NC_000003.12:23198693:C:T
- Gene:
- UBE2E2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00031/2
(1000Genomes)
- HGVS:
9.
rs1488603068 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:23195631
(GRCh38)
3:23237122
(GRCh37)
- Canonical SPDI:
- NC_000003.12:23195630:A:G
- Gene:
- UBE2E2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
10.
rs1488565583 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:23204530
(GRCh38)
3:23246021
(GRCh37)
- Canonical SPDI:
- NC_000003.12:23204529:G:C
- Gene:
- UBE2E2 (Varview), UBE2E2-DT (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
11.
rs1488486538 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 3:23196561
(GRCh38)
3:23238052
(GRCh37)
- Canonical SPDI:
- NC_000003.12:23196560:A:C
- Gene:
- UBE2E2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
12.
rs1488479134 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 3:23204591
(GRCh38)
3:23246082
(GRCh37)
- Canonical SPDI:
- NC_000003.12:23204590:T:A
- Gene:
- UBE2E2 (Varview), UBE2E2-DT (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1487870756 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 3:23199300
(GRCh38)
3:23240791
(GRCh37)
- Canonical SPDI:
- NC_000003.12:23199299:T:A
- Gene:
- UBE2E2-DT (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:
15.
rs1487351163 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:23204584
(GRCh38)
3:23246075
(GRCh37)
- Canonical SPDI:
- NC_000003.12:23204583:G:T
- Gene:
- UBE2E2 (Varview), UBE2E2-DT (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
16.
rs1487087431 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 3:23200005
(GRCh38)
3:23241496
(GRCh37)
- Canonical SPDI:
- NC_000003.12:23200004:C:G,NC_000003.12:23200004:C:T
- Gene:
- UBE2E2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000066/1
(
ALFA)
T=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
18.
rs1486592742 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:23201800
(GRCh38)
3:23243291
(GRCh37)
- Canonical SPDI:
- NC_000003.12:23201799:A:G
- Gene:
- UBE2E2 (Varview), UBE2E2-DT (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
19.
rs1486455886 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:23199015
(GRCh38)
3:23240506
(GRCh37)
- Canonical SPDI:
- NC_000003.12:23199014:G:C
- Gene:
- UBE2E2-DT (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1486420666 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:23201562
(GRCh38)
3:23243053
(GRCh37)
- Canonical SPDI:
- NC_000003.12:23201561:G:A
- Gene:
- UBE2E2 (Varview), UBE2E2-DT (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS: