Links from Gene
Items: 1 to 20 of 1713
1.
rs1490569848 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 10:43646298
(GRCh38)
10:44141746
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43646297:G:T
- Gene:
- ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
- Functional Consequence:
- splice_donor_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
2.
rs1490221457 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:43643660
(GRCh38)
10:44139108
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43643659:T:C
- Gene:
- ZNF32 (Varview), ZNF32-AS1 (Varview), ZNF32-AS3 (Varview)
- Functional Consequence:
- 500B_downstream_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
3.
rs1489739687 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:43644138
(GRCh38)
10:44139586
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43644137:T:C
- Gene:
- ZNF32 (Varview), ZNF32-AS1 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
NC_000010.11:g.43644138T>C, NC_000010.10:g.44139586T>C, NM_001005368.3:c.734A>G, NM_001005368.2:c.734A>G, NM_001005368.1:c.734A>G, NM_006973.3:c.734A>G, NM_006973.2:c.734A>G, NM_001324165.2:c.746A>G, NM_001324165.1:c.746A>G, NM_001324168.2:c.659A>G, NM_001324168.1:c.659A>G, NM_001324164.2:c.746A>G, NM_001324164.1:c.746A>G, NM_001324166.2:c.659A>G, NM_001324166.1:c.659A>G, NM_001324167.2:c.659A>G, NM_001324167.1:c.659A>G, NP_001005368.1:p.Tyr245Cys, NP_008904.1:p.Tyr245Cys, NP_001311094.1:p.Tyr249Cys, NP_001311097.1:p.Tyr220Cys, NP_001311093.1:p.Tyr249Cys, NP_001311095.1:p.Tyr220Cys, NP_001311096.1:p.Tyr220Cys
4.
rs1489710873 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:43645708
(GRCh38)
10:44141156
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43645707:G:A
- Gene:
- ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
5.
rs1489671991 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACAG>-
[Show Flanks]
- Chromosome:
- 10:43646930
(GRCh38)
10:44142378
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43646927:AGACAG:AG
- Gene:
- ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AG=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000023/6
(TOPMED)
- HGVS:
6.
rs1488748014 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:43648336
(GRCh38)
10:44143784
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43648335:G:A
- Gene:
- ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_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:
7.
rs1488422193 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 10:43644270
(GRCh38)
10:44139718
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43644269:T:G
- Gene:
- ZNF32 (Varview), ZNF32-AS1 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000010.11:g.43644270T>G, NC_000010.10:g.44139718T>G, NM_001005368.3:c.602A>C, NM_001005368.2:c.602A>C, NM_001005368.1:c.602A>C, NM_006973.3:c.602A>C, NM_006973.2:c.602A>C, NM_001324165.2:c.614A>C, NM_001324165.1:c.614A>C, NM_001324168.2:c.527A>C, NM_001324168.1:c.527A>C, NM_001324164.2:c.614A>C, NM_001324164.1:c.614A>C, NM_001324166.2:c.527A>C, NM_001324166.1:c.527A>C, NM_001324167.2:c.527A>C, NM_001324167.1:c.527A>C, NP_001005368.1:p.Lys201Thr, NP_008904.1:p.Lys201Thr, NP_001311094.1:p.Lys205Thr, NP_001311097.1:p.Lys176Thr, NP_001311093.1:p.Lys205Thr, NP_001311095.1:p.Lys176Thr, NP_001311096.1:p.Lys176Thr
8.
rs1487745780 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 10:43646842
(GRCh38)
10:44142291
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43646842:A:AA
- Gene:
- ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
10.
rs1487552376 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTCATATT>-
[Show Flanks]
- Chromosome:
- 10:43647923
(GRCh38)
10:44143371
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43647919:ATTGTCATATT:ATT
- Gene:
- ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATT=0./0
(
ALFA)
-=0.000053/14
(TOPMED)
-=0.000057/8
(GnomAD)
- HGVS:
11.
rs1486865232 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:43646169
(GRCh38)
10:44141617
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43646168:T:C
- Gene:
- ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000010.11:g.43646169T>C, NC_000010.10:g.44141617T>C, NM_001005368.3:c.-36A>G, NM_001005368.2:c.-36A>G, NM_001005368.1:c.-36A>G, NM_006973.3:c.-36A>G, NM_006973.2:c.-36A>G, NM_001324165.2:c.-130A>G, NM_001324165.1:c.-130A>G, NM_001324168.2:c.-115A>G, NM_001324168.1:c.-115A>G, NM_001324164.2:c.-130A>G, NM_001324164.1:c.-130A>G, NM_001324166.2:c.-119A>G, NM_001324166.1:c.-119A>G, NM_001324167.2:c.-115A>G, NM_001324167.1:c.-115A>G, NR_047558.1:n.228T>C
12.
rs1486823707 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 10:43648900
(GRCh38)
10:44144348
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43648899:C:A,NC_000010.11:43648899:C:G
- Gene:
- ZNF32 (Varview), ZNF32-AS3 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
A=0.000142/2
(TOMMO)
- HGVS:
13.
rs1486299939 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CAAA
[Show Flanks]
- Chromosome:
- 10:43650202
(GRCh38)
10:44145651
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43650202:CAAA:CAAACAAA
- Gene:
- ZNF32 (Varview), ZNF32-AS3 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CAAACAAA=0./0
(
ALFA)
CAAA=0.000004/1
(TOPMED)
CAAA=0.000007/1
(GnomAD)
- HGVS:
14.
rs1486166450 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:43649164
(GRCh38)
10:44144612
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43649163:C:T
- Gene:
- ZNF32 (Varview), ZNF32-AS3 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1486147444 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 10:43645624
(GRCh38)
10:44141072
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43645623:G:A,NC_000010.11:43645623:G:T
- Gene:
- ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
16.
rs1485775220 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 10:43644740
(GRCh38)
10:44140188
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43644739:C:G
- Gene:
- ZNF32 (Varview), ZNF32-AS1 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000010.11:g.43644740C>G, NC_000010.10:g.44140188C>G, NM_001005368.3:c.132G>C, NM_001005368.2:c.132G>C, NM_001005368.1:c.132G>C, NM_006973.3:c.132G>C, NM_006973.2:c.132G>C, NM_001324165.2:c.144G>C, NM_001324165.1:c.144G>C, NM_001324168.2:c.57G>C, NM_001324168.1:c.57G>C, NM_001324164.2:c.144G>C, NM_001324164.1:c.144G>C, NM_001324166.2:c.57G>C, NM_001324166.1:c.57G>C, NM_001324167.2:c.57G>C, NM_001324167.1:c.57G>C, NP_001005368.1:p.Trp44Cys, NP_008904.1:p.Trp44Cys, NP_001311094.1:p.Trp48Cys, NP_001311097.1:p.Trp19Cys, NP_001311093.1:p.Trp48Cys, NP_001311095.1:p.Trp19Cys, NP_001311096.1:p.Trp19Cys
17.
rs1484805801 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:43644731
(GRCh38)
10:44140179
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43644730:T:C
- Gene:
- ZNF32 (Varview), ZNF32-AS1 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000010.11:g.43644731T>C, NC_000010.10:g.44140179T>C, NM_001005368.3:c.141A>G, NM_001005368.2:c.141A>G, NM_001005368.1:c.141A>G, NM_006973.3:c.141A>G, NM_006973.2:c.141A>G, NM_001324165.2:c.153A>G, NM_001324165.1:c.153A>G, NM_001324168.2:c.66A>G, NM_001324168.1:c.66A>G, NM_001324164.2:c.153A>G, NM_001324164.1:c.153A>G, NM_001324166.2:c.66A>G, NM_001324166.1:c.66A>G, NM_001324167.2:c.66A>G, NM_001324167.1:c.66A>G
18.
rs1484661009 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:43649674
(GRCh38)
10:44145122
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43649673:C:T
- Gene:
- ZNF32 (Varview), ZNF32-AS3 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1483508124 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:43643944
(GRCh38)
10:44139392
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43643943:C:T
- Gene:
- ZNF32 (Varview), ZNF32-AS1 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
NC_000010.11:g.43643944C>T, NC_000010.10:g.44139392C>T, NM_001005368.3:c.*106G>A, NM_001005368.2:c.*106G>A, NM_001005368.1:c.*106G>A, NM_006973.3:c.*106G>A, NM_006973.2:c.*106G>A, NM_001324165.2:c.*106G>A, NM_001324165.1:c.*106G>A, NM_001324168.2:c.*106G>A, NM_001324168.1:c.*106G>A, NM_001324164.2:c.*106G>A, NM_001324164.1:c.*106G>A, NM_001324166.2:c.*106G>A, NM_001324166.1:c.*106G>A, NM_001324167.2:c.*106G>A, NM_001324167.1:c.*106G>A, NR_047557.1:n.73C>T