Links from Nucleotide
Items: 1 to 20 of 206
1.
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:
2.
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
3.
rs1482288724 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:43647205
(GRCh38)
10:44142653
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43647204:T:C
- 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:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
4.
rs1477578667 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:43647714
(GRCh38)
10:44143162
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43647713:G:A
- Gene:
- ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
5.
rs1473495668 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TAG>-
[Show Flanks]
- Chromosome:
- 10:43647827
(GRCh38)
10:44143275
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43647824:AGTAG:AG
- 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:
AG=0./0
(
ALFA)
-=0.000036/5
(GnomAD)
-=0.000053/14
(TOPMED)
- HGVS:
6.
rs1469613630 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:43647988
(GRCh38)
10:44143436
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43647987:C:T
- Gene:
- ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1469297965 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 10:43646018
(GRCh38)
10:44141466
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43646017:A:C
- Gene:
- ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
8.
rs1468277484 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 10:43646109
(GRCh38)
10:44141557
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43646108:G:T
- Gene:
- ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
- Functional Consequence:
- coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant,missense_variant,intron_variant
- Validated:
- by frequency
- MAF:
T=0.000008/2
(GnomAD_exomes)
- HGVS:
NC_000010.11:g.43646109G>T, NC_000010.10:g.44141557G>T, NM_001005368.3:c.25C>A, NM_001005368.2:c.25C>A, NM_001005368.1:c.25C>A, NM_006973.3:c.25C>A, NM_006973.2:c.25C>A, NM_001324165.2:c.-70C>A, NM_001324165.1:c.-70C>A, NM_001324168.2:c.-55C>A, NM_001324168.1:c.-55C>A, NM_001324164.2:c.-70C>A, NM_001324164.1:c.-70C>A, NM_001324166.2:c.-59C>A, NM_001324166.1:c.-59C>A, NM_001324167.2:c.-55C>A, NM_001324167.1:c.-55C>A, NR_047558.1:n.168G>T, NP_001005368.1:p.Leu9Met, NP_008904.1:p.Leu9Met
9.
rs1465697489 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 10:43648018
(GRCh38)
10:44143466
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43648017:T:G
- Gene:
- ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
10.
rs1452692521 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 10:43647724
(GRCh38)
10:44143172
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43647723:G:T
- Gene:
- ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.00004/1
(TOMMO)
T=0.00137/4
(KOREAN)
T=0.00328/6
(Korea1K)
- HGVS:
11.
rs1450356275 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:43646093
(GRCh38)
10:44141541
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43646092:C:T
- Gene:
- ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,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:
NC_000010.11:g.43646093C>T, NC_000010.10:g.44141541C>T, NM_001005368.3:c.41G>A, NM_001005368.2:c.41G>A, NM_001005368.1:c.41G>A, NM_006973.3:c.41G>A, NM_006973.2:c.41G>A, NM_001324165.2:c.-54G>A, NM_001324165.1:c.-54G>A, NM_001324168.2:c.-39G>A, NM_001324168.1:c.-39G>A, NM_001324164.2:c.-54G>A, NM_001324164.1:c.-54G>A, NM_001324166.2:c.-43G>A, NM_001324166.1:c.-43G>A, NM_001324167.2:c.-39G>A, NM_001324167.1:c.-39G>A, NR_047558.1:n.152C>T, NP_001005368.1:p.Gly14Glu, NP_008904.1:p.Gly14Glu
12.
rs1449636522 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:43647644
(GRCh38)
10:44143092
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43647643:G:A
- Gene:
- ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
13.
rs1448870130 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:43647804
(GRCh38)
10:44143252
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43647803:G:A
- 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:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1441022772 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 10:43646023
(GRCh38)
10:44141471
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43646022:C:A,NC_000010.11:43646022:C:T
- Gene:
- ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
NC_000010.11:g.43646023C>A, NC_000010.11:g.43646023C>T, NC_000010.10:g.44141471C>A, NC_000010.10:g.44141471C>T, NM_001324165.2:c.17G>T, NM_001324165.2:c.17G>A, NM_001324165.1:c.17G>T, NM_001324165.1:c.17G>A, NM_001324164.2:c.17G>T, NM_001324164.2:c.17G>A, NM_001324164.1:c.17G>T, NM_001324164.1:c.17G>A, NR_047558.1:n.82C>A, NR_047558.1:n.82C>T, NP_001311094.1:p.Arg6Ile, NP_001311094.1:p.Arg6Lys, NP_001311093.1:p.Arg6Ile, NP_001311093.1:p.Arg6Lys
15.
rs1440255050 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 10:43646157
(GRCh38)
10:44141605
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43646156:G:C
- Gene:
- ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000010.11:g.43646157G>C, NC_000010.10:g.44141605G>C, NM_001005368.3:c.-24C>G, NM_001005368.2:c.-24C>G, NM_001005368.1:c.-24C>G, NM_006973.3:c.-24C>G, NM_006973.2:c.-24C>G, NM_001324165.2:c.-118C>G, NM_001324165.1:c.-118C>G, NM_001324168.2:c.-103C>G, NM_001324168.1:c.-103C>G, NM_001324164.2:c.-118C>G, NM_001324164.1:c.-118C>G, NM_001324166.2:c.-107C>G, NM_001324166.1:c.-107C>G, NM_001324167.2:c.-103C>G, NM_001324167.1:c.-103C>G, NR_047558.1:n.216G>C
17.
rs1437720476 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:43647745
(GRCh38)
10:44143193
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43647744:C:T
- Gene:
- ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
18.
rs1436858293 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:43645992
(GRCh38)
10:44141440
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43645991:G:A
- Gene:
- ZNF32 (Varview), ZNF32-AS3 (Varview), ZNF32-AS2 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000026/7
(TOPMED)
A=0.00005/7
(GnomAD)
- HGVS:
19.
rs1434520733 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:43647773
(GRCh38)
10:44143221
(GRCh37)
- Canonical SPDI:
- NC_000010.11:43647772:T:C
- 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:
C=0.000224/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS: