Links from Gene
Items: 1 to 20 of 973
1.
rs1491415534 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 1:110111764
(GRCh38)
1:110654387
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110111764::C
- Gene:
- UBL4B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00004/4
(GnomAD)
- HGVS:
3.
rs1490954875 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:110112603
(GRCh38)
1:110655225
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110112602:A:G
- Gene:
- UBL4B (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(GnomAD_exomes)
- HGVS:
4.
rs1490467797 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:110111052
(GRCh38)
1:110653674
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110111051:A:G
- Gene:
- UBL4B (Varview)
- Functional Consequence:
- upstream_transcript_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:
5.
rs1489114615 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 1:110111881
(GRCh38)
1:110654503
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110111880:G:C,NC_000001.11:110111880:G:T
- Gene:
- UBL4B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000023/6
(TOPMED)
C=0.000071/1
(TOMMO)
- HGVS:
6.
rs1487551208 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:110113511
(GRCh38)
1:110656133
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110113510:G:A
- Gene:
- UBL4B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000108/2
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000021/3
(GnomAD)
A=0.000446/2
(Estonian)
- HGVS:
7.
rs1487545658 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:110111526
(GRCh38)
1:110654148
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110111525:A:C
- Gene:
- UBL4B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
8.
rs1487086233 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:110112514
(GRCh38)
1:110655136
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110112513:C:T
- Gene:
- UBL4B (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1486489122 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:110112667
(GRCh38)
1:110655289
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110112666:T:C
- Gene:
- UBL4B (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
10.
rs1485818739 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:110113997
(GRCh38)
1:110656619
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110113996:A:G
- Gene:
- UBL4B (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000021/3
(GnomAD)
G=0.000071/1
(TOMMO)
- HGVS:
11.
rs1482493833 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:110112523
(GRCh38)
1:110655145
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110112522:C:T
- Gene:
- UBL4B (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
12.
rs1481710188 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:110110581
(GRCh38)
1:110653203
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110110580:G:A
- Gene:
- UBL4B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00005/7
(GnomAD)
A=0.000147/39
(TOPMED)
- HGVS:
13.
rs1481666284 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:110111404
(GRCh38)
1:110654026
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110111403:G:A,NC_000001.11:110111403:G:T
- Gene:
- UBL4B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000021/3
(GnomAD)
T=0.000071/1
(TOMMO)
A=0.000156/1
(1000Genomes)
- HGVS:
14.
rs1481072803 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:110113101
(GRCh38)
1:110655723
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110113100:C:T
- Gene:
- UBL4B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000224/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
15.
rs1480774893 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:110111747
(GRCh38)
1:110654369
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110111746:C:A,NC_000001.11:110111746:C:T
- Gene:
- UBL4B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000008/1
(GnomAD)
- HGVS:
17.
rs1480634916 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:110112879
(GRCh38)
1:110655501
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110112878:G:A
- Gene:
- UBL4B (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
18.
rs1480149921 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:110113796
(GRCh38)
1:110656418
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110113795:C:T
- Gene:
- UBL4B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1478778414 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:110112004
(GRCh38)
1:110654626
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110112003:A:T
- Gene:
- UBL4B (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:
20.
rs1477613282 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:110111305
(GRCh38)
1:110653927
(GRCh37)
- Canonical SPDI:
- NC_000001.11:110111304:C:T
- Gene:
- UBL4B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: