Links from Gene
Items: 1 to 20 of 1693
1.
rs1490964401 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:63951830
(GRCh38)
20:62583183
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63951829:G:A
- Gene:
- UCKL1 (Varview), UCKL1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
2.
rs1489821272 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 20:63956993
(GRCh38)
20:62588346
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63956992:A:C
- Gene:
- UCKL1 (Varview), ZNF512B (Varview), UCKL1-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,downstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
NC_000020.11:g.63956993A>C, NC_000020.10:g.62588346A>C, XM_011528930.3:c.*2895T>G, XM_011528930.2:c.*2895T>G, XM_011528930.1:c.*2895T>G, NM_020713.3:c.*2895T>G, NM_020713.2:c.*2895T>G, XM_047440326.1:c.*2895T>G, XM_047440327.1:c.*2895T>G, XM_047440329.1:c.*2895T>G, XM_047440328.1:c.*2895T>G
3.
rs1489744767 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 20:63956436
(GRCh38)
20:62587789
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63956435:G:A,NC_000020.11:63956435:G:C,NC_000020.11:63956435:G:T
- Gene:
- UCKL1 (Varview), ZNF512B (Varview), UCKL1-AS1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
NC_000020.11:g.63956436G>A, NC_000020.11:g.63956436G>C, NC_000020.11:g.63956436G>T, NC_000020.10:g.62587789G>A, NC_000020.10:g.62587789G>C, NC_000020.10:g.62587789G>T, NM_017859.3:c.-64C>T, NM_017859.3:c.-64C>G, NM_017859.3:c.-64C>A, NR_027287.2:n.3053G>A, NR_027287.2:n.3053G>C, NR_027287.2:n.3053G>T, NR_027287.1:n.3053G>A, NR_027287.1:n.3053G>C, NR_027287.1:n.3053G>T, NR_148434.1:n.12C>T, NR_148434.1:n.12C>G, NR_148434.1:n.12C>A, NR_148439.1:n.12C>T, NR_148439.1:n.12C>G, NR_148439.1:n.12C>A, NM_001353480.1:c.-428C>T, NM_001353480.1:c.-428C>G, NM_001353480.1:c.-428C>A, NM_001353475.1:c.-64C>T, NM_001353475.1:c.-64C>G, NM_001353475.1:c.-64C>A, NR_148436.1:n.12C>T, NR_148436.1:n.12C>G, NR_148436.1:n.12C>A, NM_001353476.1:c.-64C>T, NM_001353476.1:c.-64C>G, NM_001353476.1:c.-64C>A, NM_001353477.1:c.-64C>T, NM_001353477.1:c.-64C>G, NM_001353477.1:c.-64C>A, NR_148435.1:n.12C>T, NR_148435.1:n.12C>G, NR_148435.1:n.12C>A, NR_126526.1:n.12C>T, NR_126526.1:n.12C>G, NR_126526.1:n.12C>A, NR_148442.1:n.12C>T, NR_148442.1:n.12C>G, NR_148442.1:n.12C>A, NR_148441.1:n.12C>T, NR_148441.1:n.12C>G, NR_148441.1:n.12C>A, NR_148437.1:n.12C>T, NR_148437.1:n.12C>G, NR_148437.1:n.12C>A, NM_001353482.1:c.-627C>T, NM_001353482.1:c.-627C>G, NM_001353482.1:c.-627C>A, NR_148440.1:n.12C>T, NR_148440.1:n.12C>G, NR_148440.1:n.12C>A, NM_001353481.1:c.-624C>T, NM_001353481.1:c.-624C>G, NM_001353481.1:c.-624C>A, NR_148438.1:n.12C>T, NR_148438.1:n.12C>G, NR_148438.1:n.12C>A
6.
rs1487962468 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 20:63952904
(GRCh38)
20:62584257
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63952903:G:C
- Gene:
- UCKL1 (Varview), UCKL1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
7.
rs1487654054 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:63954442
(GRCh38)
20:62585795
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63954441:G:A
- Gene:
- UCKL1 (Varview), UCKL1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000224/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
8.
rs1487470386 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 20:63955513
(GRCh38)
20:62586866
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63955512:G:C
- Gene:
- UCKL1 (Varview), UCKL1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
10.
rs1487328896 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 20:63955309
(GRCh38)
20:62586662
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63955308:A:G,NC_000020.11:63955308:A:T
- Gene:
- UCKL1 (Varview), UCKL1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1487273930 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:63955806
(GRCh38)
20:62587159
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63955805:C:T
- Gene:
- UCKL1 (Varview), UCKL1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
12.
rs1486800298 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:63952988
(GRCh38)
20:62584341
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63952987:G:A
- Gene:
- UCKL1 (Varview), UCKL1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
14.
rs1486175951 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:63956494
(GRCh38)
20:62587847
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63956493:C:T
- Gene:
- UCKL1 (Varview), ZNF512B (Varview), UCKL1-AS1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,500B_downstream_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1486115245 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 20:63953075
(GRCh38)
20:62584428
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63953074:A:C
- Gene:
- UCKL1 (Varview), UCKL1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_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:
17.
rs1485387157 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:63955009
(GRCh38)
20:62586362
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63955008:C:T
- Gene:
- UCKL1 (Varview), UCKL1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
18.
rs1485357572 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:63956840
(GRCh38)
20:62588193
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63956839:C:T
- Gene:
- UCKL1 (Varview), ZNF512B (Varview), UCKL1-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
NC_000020.11:g.63956840C>T, NC_000020.10:g.62588193C>T, XM_011528930.3:c.*3048G>A, XM_011528930.2:c.*3048G>A, XM_011528930.1:c.*3048G>A, NM_020713.3:c.*3048G>A, NM_020713.2:c.*3048G>A, NR_027287.2:n.3457C>T, NR_027287.1:n.3426C>T, XM_047440326.1:c.*3048G>A, XM_047440327.1:c.*3048G>A, XM_047440329.1:c.*3048G>A, XM_047440328.1:c.*3048G>A
19.
rs1485273687 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 20:63954061
(GRCh38)
20:62585414
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63954060:C:
- Gene:
- UCKL1 (Varview), UCKL1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
20.
rs1485243564 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:63956223
(GRCh38)
20:62587576
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63956222:C:T
- Gene:
- UCKL1 (Varview), ZNF512B (Varview), UCKL1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS: