Links from Gene
Items: 1 to 20 of 4872
1.
rs1491527623 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 20:63960339
(GRCh38)
20:62591693
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63960339::C
- Gene:
- ZNF512B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00046/8
(TOMMO)
- HGVS:
2.
rs1491519404 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 20:63970920
(GRCh38)
20:62602273
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63970919:TT:
- Gene:
- ZNF512B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00809/96
(
ALFA)
-=0.00026/3
(TOMMO)
-=0.01327/6
(NorthernSweden)
-=0.02366/124
(GnomAD)
...more- HGVS:
3.
rs1491499079 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 20:63970920
(GRCh38)
20:62602274
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63970920::C
- Gene:
- ZNF512B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00034/4
(
ALFA)
C=0.00007/1
(TOMMO)
C=0.00261/6
(GnomAD)
...more- HGVS:
5.
rs1491217771 has merged into rs551560956 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 20:63971838
(GRCh38)
20:62603191
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63971826:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:63971826:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:63971826:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:63971826:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:63971826:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:63971826:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:63971826:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:63971826:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:63971826:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:63971826:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:63971826:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF512B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.2376/1190
(1000Genomes)
- HGVS:
NC_000020.11:g.63971838_63971845del, NC_000020.11:g.63971839_63971845del, NC_000020.11:g.63971842_63971845del, NC_000020.11:g.63971843_63971845del, NC_000020.11:g.63971844_63971845del, NC_000020.11:g.63971845del, NC_000020.11:g.63971845dup, NC_000020.11:g.63971844_63971845dup, NC_000020.11:g.63971843_63971845dup, NC_000020.11:g.63971842_63971845dup, NC_000020.11:g.63971841_63971845dup, NC_000020.10:g.62603191_62603198del, NC_000020.10:g.62603192_62603198del, NC_000020.10:g.62603195_62603198del, NC_000020.10:g.62603196_62603198del, NC_000020.10:g.62603197_62603198del, NC_000020.10:g.62603198del, NC_000020.10:g.62603198dup, NC_000020.10:g.62603197_62603198dup, NC_000020.10:g.62603196_62603198dup, NC_000020.10:g.62603195_62603198dup, NC_000020.10:g.62603194_62603198dup ...more
6.
rs1491117969 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 20:63971826
(GRCh38)
20:62603179
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63971825:AT:
- Gene:
- ZNF512B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000084/1
(
ALFA)
-=0.000017/2
(GnomAD)
- HGVS:
8.
rs1490984427 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:63968789
(GRCh38)
20:62600142
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63968788:C:T
- Gene:
- ZNF512B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
9.
rs1490884401 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 20:63962643
(GRCh38)
20:62593996
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63962642:C:A,NC_000020.11:63962642:C:T
- Gene:
- ZNF512B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000020.11:g.63962643C>A, NC_000020.11:g.63962643C>T, NC_000020.10:g.62593996C>A, NC_000020.10:g.62593996C>T, XM_011528930.3:c.2149G>T, XM_011528930.3:c.2149G>A, XM_011528930.2:c.2149G>T, XM_011528930.2:c.2149G>A, XM_011528930.1:c.2149G>T, XM_011528930.1:c.2149G>A, NM_020713.3:c.2107G>T, NM_020713.3:c.2107G>A, NM_020713.2:c.2107G>T, NM_020713.2:c.2107G>A, XM_047440326.1:c.2332G>T, XM_047440326.1:c.2332G>A, XM_047440327.1:c.2107G>T, XM_047440327.1:c.2107G>A, XM_047440329.1:c.1114G>T, XM_047440329.1:c.1114G>A, XM_047440328.1:c.1117G>T, XM_047440328.1:c.1117G>A, XP_011527232.1:p.Ala717Ser, XP_011527232.1:p.Ala717Thr, NP_065764.1:p.Ala703Ser, NP_065764.1:p.Ala703Thr, XP_047296282.1:p.Ala778Ser, XP_047296282.1:p.Ala778Thr, XP_047296283.1:p.Ala703Ser, XP_047296283.1:p.Ala703Thr, XP_047296285.1:p.Ala372Ser, XP_047296285.1:p.Ala372Thr, XP_047296284.1:p.Ala373Ser, XP_047296284.1:p.Ala373Thr ...more
10.
rs1490799739 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:63965411
(GRCh38)
20:62596764
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63965410:G:A
- Gene:
- ZNF512B (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.02745/79
(KOREAN)
- HGVS:
11.
rs1490529524 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 20:63969340
(GRCh38)
20:62600693
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63969339:C:G
- Gene:
- ZNF512B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
...more- HGVS:
12.
rs1490387370 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:63961755
(GRCh38)
20:62593108
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63961754:G:A
- Gene:
- ZNF512B (Varview)
- Functional Consequence:
- genic_downstream_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)
...more- HGVS:
13.
rs1489844288 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 20:63969251
(GRCh38)
20:62600604
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63969250:G:T
- Gene:
- ZNF512B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000043/6
(GnomAD)
T=0.000064/17
(TOPMED)
...more- HGVS:
14.
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)
...more- 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 ...more
15.
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)
...more- 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 ...more
16.
rs1489518112 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 20:63970188
(GRCh38)
20:62601541
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63970187:G:T
- Gene:
- ZNF512B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1489499247 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 20:63968393
(GRCh38)
20:62599746
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63968392:GGGG:GGG
- Gene:
- ZNF512B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGG=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
...more- HGVS:
19.
rs1489204305 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:63969658
(GRCh38)
20:62601011
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63969657:G:A
- Gene:
- ZNF512B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000122/2
(
ALFA)
A=0.00012/16
(GnomAD)
G=0.5/1
(SGDP_PRJ)
...more- HGVS:
20.
rs1489154031 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:63968311
(GRCh38)
20:62599664
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63968310:A:G
- Gene:
- ZNF512B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.00046/8
(TOMMO)
G=0.00171/5
(KOREAN)
- HGVS: