Links from Gene
Items: 1 to 20 of 976
1.
rs1490529403 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:124915213
(GRCh38)
12:125399759
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124915212:G:A
- Gene:
- UBC (Varview), MIR5188 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,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:
2.
rs1490413146 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 12:124913955
(GRCh38)
12:125398501
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124913954:T:A
- Gene:
- UBC (Varview), MIR5188 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
3.
rs1490205081 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATGCCCCCCACC
[Show Flanks]
- Chromosome:
- 12:124914352
(GRCh38)
12:125398899
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124914352:CCCACCATGCCCCCCACC:CCCACCATGCCCCCCACCATGCCCCCCACC
- Gene:
- UBC (Varview), MIR5188 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CCCACCATGCCCCCCACCATGCCCCCCACC=0./0
(
ALFA)
- HGVS:
5.
rs1490065834 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:124914698
(GRCh38)
12:125399244
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124914697:G:A
- Gene:
- UBC (Varview), MIR5188 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
6.
rs1488891665 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 12:124914251
(GRCh38)
12:125398797
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124914250:A:T
- Gene:
- UBC (Varview), MIR5188 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
7.
rs1488772620 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:124914534
(GRCh38)
12:125399080
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124914533:G:A
- Gene:
- UBC (Varview), MIR5188 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
8.
rs1487491286 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 12:124914956
(GRCh38)
12:125399502
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124914955:G:T
- Gene:
- UBC (Varview), MIR5188 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
9.
rs1486828746 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:124915446
(GRCh38)
12:125399992
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124915445:T:C
- Gene:
- UBC (Varview), MIR5188 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000084/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
10.
rs1485602797 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:124914489
(GRCh38)
12:125399035
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124914488:C:G
- Gene:
- UBC (Varview), MIR5188 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1484853873 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 12:124913929
(GRCh38)
12:125398475
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124913928:G:A,NC_000012.12:124913928:G:C
- Gene:
- UBC (Varview), MIR5188 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1482422980 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:124915336
(GRCh38)
12:125399882
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124915335:A:C
- Gene:
- UBC (Varview), MIR5188 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
14.
rs1482333048 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:124914874
(GRCh38)
12:125399420
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124914873:G:A
- Gene:
- UBC (Varview), MIR5188 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1481803270 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:124914450
(GRCh38)
12:125398996
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124914449:C:T
- Gene:
- UBC (Varview), MIR5188 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
16.
rs1481704716 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CCCTCGGGTCGCGAACCCCGCGTTC
[Show Flanks]
- Chromosome:
- 12:124915058
(GRCh38)
12:125399605
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124915058:TCCCCTCGGGTCGCGAACCCCGCGTTC:TCCCCTCGGGTCGCGAACCCCGCGTTCCCCTCGGGTCGCGAACCCCGCGTTC
- Gene:
- UBC (Varview), MIR5188 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
TCCCCTCGGGTCGCGAACCCCGCGT=0.000029/4
(GnomAD)
- HGVS:
17.
rs1481434729 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:124914169
(GRCh38)
12:125398715
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124914168:A:G
- Gene:
- UBC (Varview), MIR5188 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
18.
rs1480074909 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:124915113
(GRCh38)
12:125399659
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124915112:C:T
- Gene:
- UBC (Varview), MIR5188 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000043/6
(GnomAD)
T=0.000071/1
(TOMMO)
- HGVS:
19.
rs1478579205 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:124914770
(GRCh38)
12:125399316
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124914769:G:C
- Gene:
- UBC (Varview), MIR5188 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000026/7
(TOPMED)
- HGVS:
20.
rs1478346505 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:124914673
(GRCh38)
12:125399219
(GRCh37)
- Canonical SPDI:
- NC_000012.12:124914672:C:T
- Gene:
- UBC (Varview), MIR5188 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS: