Links from Gene
Items: 1 to 20 of 5035
1.
rs1491184187 has merged into rs533822857 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGGG>-,GG,GGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG
[Show Flanks]
- Chromosome:
- 22:20131104
(GRCh38)
22:20118627
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20131098:GGGGGGGGG:GGGGG,NC_000022.11:20131098:GGGGGGGGG:GGGGGGG,NC_000022.11:20131098:GGGGGGGGG:GGGGGGGG,NC_000022.11:20131098:GGGGGGGGG:GGGGGGGGGG,NC_000022.11:20131098:GGGGGGGGG:GGGGGGGGGGG,NC_000022.11:20131098:GGGGGGGGG:GGGGGGGGGGGG,NC_000022.11:20131098:GGGGGGGGG:GGGGGGGGGGGGG
- Gene:
- ZDHHC8 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGG=0./0
(
ALFA)
-=0.175/7
(GENOME_DK)
G=0.20266/122
(1000Genomes)
- HGVS:
NC_000022.11:g.20131104_20131107del, NC_000022.11:g.20131106_20131107del, NC_000022.11:g.20131107del, NC_000022.11:g.20131107dup, NC_000022.11:g.20131106_20131107dup, NC_000022.11:g.20131105_20131107dup, NC_000022.11:g.20131104_20131107dup, NC_000022.10:g.20118627_20118630del, NC_000022.10:g.20118629_20118630del, NC_000022.10:g.20118630del, NC_000022.10:g.20118630dup, NC_000022.10:g.20118629_20118630dup, NC_000022.10:g.20118628_20118630dup, NC_000022.10:g.20118627_20118630dup, NG_021420.1:g.4264_4267del, NG_021420.1:g.4266_4267del, NG_021420.1:g.4267del, NG_021420.1:g.4267dup, NG_021420.1:g.4266_4267dup, NG_021420.1:g.4265_4267dup, NG_021420.1:g.4264_4267dup
2.
rs1490787277 has merged into rs34467871 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,AAA,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 22:20133730
(GRCh38)
22:20121253
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20133721:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000022.11:20133721:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:20133721:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:20133721:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:20133721:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:20133721:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:20133721:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:20133721:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:20133721:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:20133721:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZDHHC8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.047/25
(NorthernSweden)
- HGVS:
NC_000022.11:g.20133730_20133740del, NC_000022.11:g.20133733_20133740del, NC_000022.11:g.20133734_20133740del, NC_000022.11:g.20133737_20133740del, NC_000022.11:g.20133738_20133740del, NC_000022.11:g.20133739_20133740del, NC_000022.11:g.20133740del, NC_000022.11:g.20133740dup, NC_000022.11:g.20133739_20133740dup, NC_000022.11:g.20133738_20133740dup, NC_000022.10:g.20121253_20121263del, NC_000022.10:g.20121256_20121263del, NC_000022.10:g.20121257_20121263del, NC_000022.10:g.20121260_20121263del, NC_000022.10:g.20121261_20121263del, NC_000022.10:g.20121262_20121263del, NC_000022.10:g.20121263del, NC_000022.10:g.20121263dup, NC_000022.10:g.20121262_20121263dup, NC_000022.10:g.20121261_20121263dup, NG_021420.1:g.6890_6900del, NG_021420.1:g.6893_6900del, NG_021420.1:g.6894_6900del, NG_021420.1:g.6897_6900del, NG_021420.1:g.6898_6900del, NG_021420.1:g.6899_6900del, NG_021420.1:g.6900del, NG_021420.1:g.6900dup, NG_021420.1:g.6899_6900dup, NG_021420.1:g.6898_6900dup
3.
rs1490772066 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:20134669
(GRCh38)
22:20122192
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20134668:G:A
- Gene:
- ZDHHC8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
4.
rs1490695916 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 22:20132962
(GRCh38)
22:20120485
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20132961:A:G
- Gene:
- ZDHHC8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
5.
rs1490674892 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:20139792
(GRCh38)
22:20127315
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20139791:C:T
- Gene:
- ZDHHC8 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000047/1
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
- HGVS:
7.
rs1490585584 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:20140120
(GRCh38)
22:20127643
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20140119:C:T
- Gene:
- ZDHHC8 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- HGVS:
NC_000022.11:g.20140120C>T, NC_000022.10:g.20127643C>T, NG_021420.1:g.13280C>T, NM_013373.4:c.563C>T, NM_013373.3:c.563C>T, NM_001185024.2:c.563C>T, NM_001185024.1:c.563C>T, XM_006724239.3:c.563C>T, XM_006724239.2:c.563C>T, XM_006724239.1:c.563C>T, NP_037505.1:p.Ala188Val, NP_001171953.1:p.Ala188Val, XP_006724302.1:p.Ala188Val
8.
rs1490574676 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 22:20139964
(GRCh38)
22:20127487
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20139963:G:C
- Gene:
- ZDHHC8 (Varview)
- Functional Consequence:
- 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:
9.
rs1490425741 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:20147185
(GRCh38)
22:20134708
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20147184:T:C
- Gene:
- ZDHHC8 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
NC_000022.11:g.20147185T>C, NC_000022.10:g.20134708T>C, NG_021420.1:g.20345T>C, NM_013373.4:c.*1785T>C, NM_013373.3:c.*1785T>C, NM_001185024.2:c.2291T>C, NM_001185024.1:c.2291T>C, XM_006724239.3:c.2291T>C, XM_006724239.2:c.2291T>C, XM_006724239.1:c.2291T>C, NP_001171953.1:p.Leu764Pro, XP_006724302.1:p.Leu764Pro
10.
rs1490208012 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:20136003
(GRCh38)
22:20123526
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20136002:T:C
- Gene:
- ZDHHC8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490151964 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 22:20133857
(GRCh38)
22:20121380
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20133856:G:A,NC_000022.11:20133856:G:T
- Gene:
- ZDHHC8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000023/6
(TOPMED)
T=0.000035/1
(TOMMO)
A=0.000156/1
(1000Genomes)
- HGVS:
12.
rs1490095622 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:20147884
(GRCh38)
22:20135407
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20147883:T:C
- Gene:
- ZDHHC8 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
13.
rs1489953323 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-,C
[Show Flanks]
- Chromosome:
- 22:20148395
(GRCh38)
22:20135918
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20148391:CCCCC:CCC,NC_000022.11:20148391:CCCCC:CCCC
- Gene:
- ZDHHC8 (Varview), CCDC188 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCC=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
- HGVS:
14.
rs1489953021 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 22:20135216
(GRCh38)
22:20122739
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20135215:A:G
- Gene:
- ZDHHC8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
15.
rs1489833560 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:20142467
(GRCh38)
22:20129990
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20142466:C:T
- Gene:
- ZDHHC8 (Varview)
- Functional Consequence:
- 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:
16.
rs1489743702 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 22:20132591
(GRCh38)
22:20120114
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20132590:A:T
- Gene:
- ZDHHC8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
17.
rs1489502718 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:20147198
(GRCh38)
22:20134721
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20147197:C:T
- Gene:
- ZDHHC8 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000018/2
(GnomAD_exomes)
- HGVS:
18.
rs1489387046 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:20138936
(GRCh38)
22:20126459
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20138935:T:C
- Gene:
- ZDHHC8 (Varview)
- Functional Consequence:
- 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:
19.
rs1489274394 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:20140080
(GRCh38)
22:20127603
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20140079:T:C
- Gene:
- ZDHHC8 (Varview)
- Functional Consequence:
- 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:
20.
rs1489066028 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 22:20134692
(GRCh38)
22:20122215
(GRCh37)
- Canonical SPDI:
- NC_000022.11:20134691:G:A,NC_000022.11:20134691:G:T
- Gene:
- ZDHHC8 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000066/1
(
ALFA)
A=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS: