Links from Gene
Items: 1 to 20 of 1000
1.
rs1491435819 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 5:711721
(GRCh38)
5:711837
(GRCh37)
- Canonical SPDI:
- NC_000005.10:711721::C
- Gene:
- ZDHHC11B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.027003/3536
(GnomAD)
C=0.058528/35
(NorthernSweden)
- HGVS:
NC_000005.10:g.711721_711722insC, NC_000005.9:g.711836_711837insC, XM_017010114.3:c.*1706_*1707insG, XM_017010113.3:c.*1706_*1707insG, XM_017010115.3:c.*1706_*1707insG, XM_017010116.3:c.*1304_*1305insG, XM_017010116.2:c.*1304_*1305insG, XM_017010116.1:c.*1304_*1305insG, XM_017010117.2:c.*1706_*1707insG, XM_017010112.2:c.*1706_*1707insG, NR_147095.2:n.3722_3723insG, NR_147095.1:n.3748_3749insG, XM_017010110.2:c.*1706_*1707insG, XM_017010111.2:c.*1706_*1707insG, NR_147096.2:n.2692_2693insG, NR_147096.1:n.2718_2719insG, NM_001351303.2:c.*568_*569insG, NM_001351303.1:c.*568_*569insG, XM_024446188.1:c.*1502_*1503insG, XM_047417580.1:c.*1437_*1438insG
3.
rs1491366843 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTGTGCAGGGGCATGCGGGGCATGTGGG,GTGTGCAGGGGCATGTGGG,GTGTGCAGGGGCATGTGGGGCATGTGGG
[Show Flanks]
- Chromosome:
- 5:751410
(GRCh38)
5:751526
(GRCh37)
- Canonical SPDI:
- NC_000005.10:751410:TGTGGG:TGTGGGGTGTGCAGGGGCATGCGGGGCATGTGGG,NC_000005.10:751410:TGTGGG:TGTGGGGTGTGCAGGGGCATGTGGG,NC_000005.10:751410:TGTGGG:TGTGGGGTGTGCAGGGGCATGTGGGGCATGTGGG
- Gene:
- ZDHHC11B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGGGGTGTGCAGGGGCATGTGGG=0./0
(
ALFA)
- HGVS:
4.
rs1491308559 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 5:710858
(GRCh38)
5:710973
(GRCh37)
- Canonical SPDI:
- NC_000005.10:710856:GAG:G
- Gene:
- ZDHHC11B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.017619/209
(
ALFA)
-=0.001027/17
(TOMMO)
-=0.001092/2
(Korea1K)
-=0.007346/939
(GnomAD)
- HGVS:
NC_000005.10:g.710858_710859del, NC_000005.9:g.710973_710974del, XM_017010114.3:c.*2570_*2571del, XM_017010113.3:c.*2570_*2571del, XM_017010115.3:c.*2570_*2571del, XM_017010116.3:c.*2168_*2169del, XM_017010116.2:c.*2168_*2169del, XM_017010116.1:c.*2168_*2169del, XM_017010117.2:c.*2570_*2571del, XM_017010112.2:c.*2570_*2571del, NR_147095.2:n.4586_4587del, NR_147095.1:n.4612_4613del, XM_017010110.2:c.*2570_*2571del, XM_017010111.2:c.*2570_*2571del, NR_147096.2:n.3556_3557del, NR_147096.1:n.3582_3583del, NM_001351303.2:c.*1432_*1433del, NM_001351303.1:c.*1432_*1433del, XM_024446188.1:c.*2366_*2367del, XM_047417580.1:c.*2301_*2302del
6.
rs1491174506 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CA
[Show Flanks]
- Chromosome:
- 5:712929
(GRCh38)
5:713045
(GRCh37)
- Canonical SPDI:
- NC_000005.10:712929:A:ACA
- Gene:
- ZDHHC11B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
ACA=0./0
(
ALFA)
AC=0.00011/3
(GnomAD)
- HGVS:
7.
rs1491024957 has merged into rs386402805 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 5:724384
(GRCh38)
5:724499
(GRCh37)
- Canonical SPDI:
- NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:724371:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZDHHC11B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000117/31
(TOPMED)
- HGVS:
NC_000005.10:g.724384_724395del, NC_000005.10:g.724385_724395del, NC_000005.10:g.724386_724395del, NC_000005.10:g.724387_724395del, NC_000005.10:g.724388_724395del, NC_000005.10:g.724389_724395del, NC_000005.10:g.724390_724395del, NC_000005.10:g.724391_724395del, NC_000005.10:g.724392_724395del, NC_000005.10:g.724393_724395del, NC_000005.10:g.724394_724395del, NC_000005.10:g.724395del, NC_000005.10:g.724395dup, NC_000005.10:g.724394_724395dup, NC_000005.10:g.724393_724395dup, NC_000005.10:g.724392_724395dup, NC_000005.10:g.724391_724395dup, NC_000005.10:g.724390_724395dup, NC_000005.10:g.724389_724395dup, NC_000005.10:g.724388_724395dup, NC_000005.10:g.724387_724395dup, NC_000005.10:g.724386_724395dup, NC_000005.10:g.724385_724395dup, NC_000005.10:g.724384_724395dup, NC_000005.10:g.724379_724395dup, NC_000005.10:g.724378_724395dup, NC_000005.10:g.724375_724395dup, NC_000005.10:g.724395_724396insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.724395_724396insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.10:g.724395_724396insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.724499_724510del, NC_000005.9:g.724500_724510del, NC_000005.9:g.724501_724510del, NC_000005.9:g.724502_724510del, NC_000005.9:g.724503_724510del, NC_000005.9:g.724504_724510del, NC_000005.9:g.724505_724510del, NC_000005.9:g.724506_724510del, NC_000005.9:g.724507_724510del, NC_000005.9:g.724508_724510del, NC_000005.9:g.724509_724510del, NC_000005.9:g.724510del, NC_000005.9:g.724510dup, NC_000005.9:g.724509_724510dup, NC_000005.9:g.724508_724510dup, NC_000005.9:g.724507_724510dup, NC_000005.9:g.724506_724510dup, NC_000005.9:g.724505_724510dup, NC_000005.9:g.724504_724510dup, NC_000005.9:g.724503_724510dup, NC_000005.9:g.724502_724510dup, NC_000005.9:g.724501_724510dup, NC_000005.9:g.724500_724510dup, NC_000005.9:g.724499_724510dup, NC_000005.9:g.724494_724510dup, NC_000005.9:g.724493_724510dup, NC_000005.9:g.724490_724510dup, NC_000005.9:g.724510_724511insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.724510_724511insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.724510_724511insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
8.
rs1490950743 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:780226
(GRCh38)
5:780341
(GRCh37)
- Canonical SPDI:
- NC_000005.10:780225:C:T
- Gene:
- ZDHHC11B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000072/10
(GnomAD)
T=0.000177/3
(TOMMO)
- HGVS:
9.
rs1490937066 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 5:747508
(GRCh38)
5:747623
(GRCh37)
- Canonical SPDI:
- NC_000005.10:747507:G:T
- Gene:
- ZDHHC11B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490920287 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:781129
(GRCh38)
5:781244
(GRCh37)
- Canonical SPDI:
- NC_000005.10:781128:G:A
- Gene:
- ZDHHC11B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000084/1
(
ALFA)
A=0.000039/5
(GnomAD)
- HGVS:
11.
rs1490899131 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 5:710735
(GRCh38)
5:710850
(GRCh37)
- Canonical SPDI:
- NC_000005.10:710734:T:A
- Gene:
- ZDHHC11B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000043/6
(GnomAD)
A=0.000119/2
(TOMMO)
- HGVS:
NC_000005.10:g.710735T>A, NC_000005.9:g.710850T>A, XM_017010114.3:c.*2693A>T, XM_017010113.3:c.*2693A>T, XM_017010115.3:c.*2693A>T, XM_017010116.3:c.*2291A>T, XM_017010116.2:c.*2291A>T, XM_017010116.1:c.*2291A>T, XM_017010117.2:c.*2693A>T, XM_017010112.2:c.*2693A>T, NR_147095.2:n.4709A>T, NR_147095.1:n.4735A>T, XM_017010110.2:c.*2693A>T, XM_017010111.2:c.*2693A>T, NR_147096.2:n.3679A>T, NR_147096.1:n.3705A>T, NM_001351303.2:c.*1555A>T, NM_001351303.1:c.*1555A>T, XM_024446188.1:c.*2489A>T, XM_047417580.1:c.*2424A>T
12.
rs1490868207 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 5:766019
(GRCh38)
5:766134
(GRCh37)
- Canonical SPDI:
- NC_000005.10:766018:C:G,NC_000005.10:766018:C:T
- Gene:
- ZDHHC11B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00004/1
(TOMMO)
T=0.00078/5
(1000Genomes)
C=0.5/1
(SGDP_PRJ)
- HGVS:
13.
rs1490823547 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:776122
(GRCh38)
5:776237
(GRCh37)
- Canonical SPDI:
- NC_000005.10:776121:C:T
- Gene:
- ZDHHC11B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490770523 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 5:742282
(GRCh38)
5:742397
(GRCh37)
- Canonical SPDI:
- NC_000005.10:742281:C:A
- Gene:
- ZDHHC11B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
15.
rs1490768971 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:732989
(GRCh38)
5:733104
(GRCh37)
- Canonical SPDI:
- NC_000005.10:732988:G:A
- Gene:
- ZDHHC11B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00016/1
(1000Genomes)
- HGVS:
NC_000005.10:g.732989G>A, NC_000005.9:g.733104G>A, XM_017010114.3:c.*18C>T, XM_017010114.2:c.*18C>T, XM_017010114.1:c.*18C>T, XM_017010113.3:c.*18C>T, XM_017010113.2:c.*18C>T, XM_017010113.1:c.*18C>T, XM_017010115.3:c.*18C>T, XM_017010115.2:c.*18C>T, XM_017010115.1:c.*18C>T, XM_017010117.2:c.*18C>T, XM_017010117.1:c.*18C>T, XM_017010112.2:c.*18C>T, XM_017010112.1:c.*18C>T, XM_017010110.2:c.*18C>T, XM_017010110.1:c.*18C>T, XM_017010111.2:c.*18C>T, XM_017010111.1:c.*18C>T
16.
rs1490738445 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 5:756475
(GRCh38)
5:756590
(GRCh37)
- Canonical SPDI:
- NC_000005.10:756474:GGGG:GGG
- Gene:
- ZDHHC11B (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGG=0.000084/1
(
ALFA)
-=0.000222/31
(GnomAD)
-=0.000312/2
(1000Genomes)
- HGVS:
18.
rs1490717801 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 5:774455
(GRCh38)
5:774570
(GRCh37)
- Canonical SPDI:
- NC_000005.10:774454:C:G,NC_000005.10:774454:C:T
- Gene:
- ZDHHC11B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_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)
T=0.000071/1
(TOMMO)
- HGVS:
20.
rs1490690572 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:718381
(GRCh38)
5:718496
(GRCh37)
- Canonical SPDI:
- NC_000005.10:718380:A:G
- Gene:
- ZDHHC11B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
A=0.5/1
(SGDP_PRJ)
- HGVS: