Links from Gene
Items: 1 to 20 of 1568
1.
rs1491304479 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 9:33738437
(GRCh38)
9:33738436
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33738437:T:TT
- Gene:
- UBE2R2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0.00008/1
(
ALFA)
T=0.00004/1
(TOMMO)
T=0.00016/1
(1000Genomes)
T=0.00075/58
(GnomAD)
- HGVS:
2.
rs1491288490 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 9:33738438
(GRCh38)
9:33738436
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33738436:ATA:A
- Gene:
- UBE2R2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00438/52
(
ALFA)
-=0.00039/6
(TOMMO)
- HGVS:
3.
rs1491066378 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 9:33738461
(GRCh38)
9:33738459
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33738459:ACA:A
- Gene:
- UBE2R2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.00108/18
(TOMMO)
- HGVS:
4.
rs1491063611 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 9:33737518
(GRCh38)
9:33737516
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33737516:AGA:A
- Gene:
- UBE2R2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000084/1
(
ALFA)
-=0.000783/101
(GnomAD)
-=0.002105/35
(TOMMO)
-=0.007096/13
(Korea1K)
-=0.025/15
(NorthernSweden)
- HGVS:
5.
rs1491024351 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AAC,AC
[Show Flanks]
- Chromosome:
- 9:33738460
(GRCh38)
9:33738459
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33738460::AAC,NC_000009.12:33738460::AC
- Gene:
- UBE2R2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AC=0./0
(
ALFA)
AC=0.000046/6
(GnomAD)
- HGVS:
6.
rs1490828029 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:33736963
(GRCh38)
9:33736961
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33736962:A:G
- Gene:
- UBE2R2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
7.
rs1490817508 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 9:33738913
(GRCh38)
9:33738911
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33738912:C:A,NC_000009.12:33738912:C:T
- Gene:
- UBE2R2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490411967 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:33737092
(GRCh38)
9:33737090
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33737091:C:A
- Gene:
- UBE2R2-AS1 (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:
9.
rs1490396260 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 9:33736030
(GRCh38)
9:33736029
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33736030:T:TT
- Gene:
- UBE2R2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1489909821 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 9:33735522
(GRCh38)
9:33735520
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33735521:T:G
- Gene:
- UBE2R2-AS1 (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:
11.
rs1489713837 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:33733810
(GRCh38)
9:33733808
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33733809:C:A
- Gene:
- UBE2R2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,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:
12.
rs1489356769 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:33734531
(GRCh38)
9:33734529
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33734530:C:T
- Gene:
- UBE2R2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
13.
rs1489110965 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 9:33737636
(GRCh38)
9:33737634
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33737635:A:C,NC_000009.12:33737635:A:G
- Gene:
- UBE2R2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
14.
rs1488849804 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:33733841
(GRCh38)
9:33733839
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33733840:C:T
- Gene:
- UBE2R2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
15.
rs1488588780 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:33734479
(GRCh38)
9:33734477
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33734478:C:T
- Gene:
- UBE2R2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
16.
rs1488263387 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 9:33735704
(GRCh38)
9:33735702
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33735703:C:G,NC_000009.12:33735703:C:T
- Gene:
- UBE2R2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
C=0.5/1
(SGDP_PRJ)
- HGVS:
17.
rs1488233263 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 9:33737843
(GRCh38)
9:33737841
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33737842:G:A,NC_000009.12:33737842:G:T
- Gene:
- UBE2R2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
18.
rs1488152488 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:33732861
(GRCh38)
9:33732859
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33732860:G:C
- Gene:
- UBE2R2-AS1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1487958192 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 9:33736149
(GRCh38)
9:33736147
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33736148:GGG:GG
- Gene:
- UBE2R2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS: