Links from Gene
Items: 1 to 20 of 1000
3.
rs1491514129 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 18:76943143
(GRCh38)
18:74655099
(GRCh37)
- Canonical SPDI:
- NC_000018.10:76943141:AGA:A
- Gene:
- ZNF236 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000253/3
(
ALFA)
-=0.000035/1
(TOMMO)
-=0.000079/11
(GnomAD)
- HGVS:
4.
rs1491493382 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GCTCATGTAAGATAAATGA
[Show Flanks]
- Chromosome:
- 18:76931739
(GRCh38)
18:74643696
(GRCh37)
- Canonical SPDI:
- NC_000018.10:76931739:ATAAATGAGCTCATGTAAGATAAATGA:ATAAATGAGCTCATGTAAGATAAATGAGCTCATGTAAGATAAATGA
- Gene:
- ZNF236 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATAAATGAGCTCATGTAAGATAAATGAGCTCATGTAAGATAAATGA=0.000071/1
(
ALFA)
ATAAATGAGCTCATGTAAG=0.000014/2
(GnomAD)
- HGVS:
5.
rs1491492816 has merged into rs11380490 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 18:76921747
(GRCh38)
18:74633703
(GRCh37)
- Canonical SPDI:
- NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76921737:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF236 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000018.10:g.76921747_76921759del, NC_000018.10:g.76921749_76921759del, NC_000018.10:g.76921750_76921759del, NC_000018.10:g.76921751_76921759del, NC_000018.10:g.76921753_76921759del, NC_000018.10:g.76921754_76921759del, NC_000018.10:g.76921755_76921759del, NC_000018.10:g.76921756_76921759del, NC_000018.10:g.76921757_76921759del, NC_000018.10:g.76921758_76921759del, NC_000018.10:g.76921759del, NC_000018.10:g.76921759dup, NC_000018.10:g.76921758_76921759dup, NC_000018.10:g.76921757_76921759dup, NC_000018.10:g.76921756_76921759dup, NC_000018.10:g.76921755_76921759dup, NC_000018.10:g.76921754_76921759dup, NC_000018.10:g.76921753_76921759dup, NC_000018.10:g.76921752_76921759dup, NC_000018.10:g.76921751_76921759dup, NC_000018.10:g.76921750_76921759dup, NC_000018.10:g.76921749_76921759dup, NC_000018.10:g.76921748_76921759dup, NC_000018.10:g.76921742_76921759dup, NC_000018.10:g.76921741_76921759dup, NC_000018.10:g.76921740_76921759dup, NC_000018.10:g.76921759_76921760insTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.76921759_76921760insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.76921759_76921760insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.76921759_76921760insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.76921759_76921760insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.76921759_76921760insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.76921759_76921760insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.76921759_76921760insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.74633703_74633715del, NC_000018.9:g.74633705_74633715del, NC_000018.9:g.74633706_74633715del, NC_000018.9:g.74633707_74633715del, NC_000018.9:g.74633709_74633715del, NC_000018.9:g.74633710_74633715del, NC_000018.9:g.74633711_74633715del, NC_000018.9:g.74633712_74633715del, NC_000018.9:g.74633713_74633715del, NC_000018.9:g.74633714_74633715del, NC_000018.9:g.74633715del, NC_000018.9:g.74633715dup, NC_000018.9:g.74633714_74633715dup, NC_000018.9:g.74633713_74633715dup, NC_000018.9:g.74633712_74633715dup, NC_000018.9:g.74633711_74633715dup, NC_000018.9:g.74633710_74633715dup, NC_000018.9:g.74633709_74633715dup, NC_000018.9:g.74633708_74633715dup, NC_000018.9:g.74633707_74633715dup, NC_000018.9:g.74633706_74633715dup, NC_000018.9:g.74633705_74633715dup, NC_000018.9:g.74633704_74633715dup, NC_000018.9:g.74633698_74633715dup, NC_000018.9:g.74633697_74633715dup, NC_000018.9:g.74633696_74633715dup, NC_000018.9:g.74633715_74633716insTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.74633715_74633716insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.74633715_74633716insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.74633715_74633716insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.74633715_74633716insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.74633715_74633716insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.74633715_74633716insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.74633715_74633716insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
6.
rs1491470781 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 18:76843807
(GRCh38)
18:74555764
(GRCh37)
- Canonical SPDI:
- NC_000018.10:76843807:AAA:AAAAAAAAAAAA,NC_000018.10:76843807:AAA:AAAAAAAAAAAAAA,NC_000018.10:76843807:AAA:AAAAAAAAAAAAAAAA,NC_000018.10:76843807:AAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:76843807:AAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF236 (Varview), LOC105372214 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
AAAAAAAAAAA=0.00036/6
(TOMMO)
- HGVS:
7.
rs1491463103 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 18:76931739
(GRCh38)
18:74643695
(GRCh37)
- Canonical SPDI:
- NC_000018.10:76931738:AA:
- Gene:
- ZNF236 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000007/1
(GnomAD)
-=0.000035/1
(TOMMO)
-=0.000546/1
(Korea1K)
- HGVS:
11.
rs1491372008 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 18:76853834
(GRCh38)
18:74565790
(GRCh37)
- Canonical SPDI:
- NC_000018.10:76853832:AAA:A
- Gene:
- ZNF236 (Varview), LOC105372214 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000071/10
(GnomAD)
- HGVS:
12.
rs1491361329 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 18:76851263
(GRCh38)
18:74563219
(GRCh37)
- Canonical SPDI:
- NC_000018.10:76851262:CT:
- Gene:
- ZNF236 (Varview), LOC105372214 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000052/7
(GnomAD)
- HGVS:
13.
rs1491319458 has merged into rs34339980 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 18:76820677
(GRCh38)
18:74532633
(GRCh37)
- Canonical SPDI:
- NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76820666:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF236 (Varview), ZNF236-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000018.10:g.76820677_76820686del, NC_000018.10:g.76820679_76820686del, NC_000018.10:g.76820680_76820686del, NC_000018.10:g.76820681_76820686del, NC_000018.10:g.76820682_76820686del, NC_000018.10:g.76820683_76820686del, NC_000018.10:g.76820684_76820686del, NC_000018.10:g.76820685_76820686del, NC_000018.10:g.76820686del, NC_000018.10:g.76820686dup, NC_000018.10:g.76820685_76820686dup, NC_000018.10:g.76820684_76820686dup, NC_000018.10:g.76820683_76820686dup, NC_000018.10:g.76820682_76820686dup, NC_000018.10:g.76820681_76820686dup, NC_000018.10:g.76820680_76820686dup, NC_000018.10:g.76820679_76820686dup, NC_000018.10:g.76820678_76820686dup, NC_000018.10:g.76820677_76820686dup, NC_000018.10:g.76820676_76820686dup, NC_000018.10:g.76820675_76820686dup, NC_000018.10:g.76820674_76820686dup, NC_000018.10:g.76820673_76820686dup, NC_000018.10:g.76820672_76820686dup, NC_000018.10:g.76820671_76820686dup, NC_000018.10:g.76820670_76820686dup, NC_000018.10:g.76820669_76820686dup, NC_000018.10:g.76820668_76820686dup, NC_000018.10:g.76820667_76820686dup, NC_000018.10:g.76820686_76820687insTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.76820686_76820687insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.76820686_76820687insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.10:g.76820686_76820687insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.74532633_74532642del, NC_000018.9:g.74532635_74532642del, NC_000018.9:g.74532636_74532642del, NC_000018.9:g.74532637_74532642del, NC_000018.9:g.74532638_74532642del, NC_000018.9:g.74532639_74532642del, NC_000018.9:g.74532640_74532642del, NC_000018.9:g.74532641_74532642del, NC_000018.9:g.74532642del, NC_000018.9:g.74532642dup, NC_000018.9:g.74532641_74532642dup, NC_000018.9:g.74532640_74532642dup, NC_000018.9:g.74532639_74532642dup, NC_000018.9:g.74532638_74532642dup, NC_000018.9:g.74532637_74532642dup, NC_000018.9:g.74532636_74532642dup, NC_000018.9:g.74532635_74532642dup, NC_000018.9:g.74532634_74532642dup, NC_000018.9:g.74532633_74532642dup, NC_000018.9:g.74532632_74532642dup, NC_000018.9:g.74532631_74532642dup, NC_000018.9:g.74532630_74532642dup, NC_000018.9:g.74532629_74532642dup, NC_000018.9:g.74532628_74532642dup, NC_000018.9:g.74532627_74532642dup, NC_000018.9:g.74532626_74532642dup, NC_000018.9:g.74532625_74532642dup, NC_000018.9:g.74532624_74532642dup, NC_000018.9:g.74532623_74532642dup, NC_000018.9:g.74532642_74532643insTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.74532642_74532643insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.74532642_74532643insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000018.9:g.74532642_74532643insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
16.
rs1491277291 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 18:76840780
(GRCh38)
18:74552737
(GRCh37)
- Canonical SPDI:
- NC_000018.10:76840780:GTGTGTGTGTG:GTGTGTGTGTGCGTGTGTGTGTG
- Gene:
- ZNF236 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GTGTGTGTGTGCGTGTGTGTGTG=0./0
(
ALFA)
GTGTGTGTGTGC=0.00008/6
(GnomAD)
- HGVS:
17.
rs1491256765 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 18:76873622
(GRCh38)
18:74585579
(GRCh37)
- Canonical SPDI:
- NC_000018.10:76873622:A:AA
- Gene:
- ZNF236 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.00006/1
(TOMMO)
A=0.000546/1
(Korea1K)
- HGVS:
18.
rs1491208615 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TA
[Show Flanks]
- Chromosome:
- 18:76851040
(GRCh38)
18:74562997
(GRCh37)
- Canonical SPDI:
- NC_000018.10:76851040::TA
- Gene:
- ZNF236 (Varview), LOC105372214 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TA=0./0
(
ALFA)
TA=0.000008/1
(GnomAD)
- HGVS:
19.
rs1491197438 has merged into rs775928958 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 18:76851272
(GRCh38)
18:74563228
(GRCh37)
- Canonical SPDI:
- NC_000018.10:76851263:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000018.10:76851263:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000018.10:76851263:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000018.10:76851263:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000018.10:76851263:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:76851263:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:76851263:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:76851263:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:76851263:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:76851263:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000018.10:76851263:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76851263:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76851263:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76851263:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76851263:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:76851263:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF236 (Varview), LOC105372214 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
TTTTTTTT=0.00507/3
(NorthernSweden)
-=0.325/13
(GENOME_DK)
- HGVS:
NC_000018.10:g.76851272_76851283del, NC_000018.10:g.76851273_76851283del, NC_000018.10:g.76851274_76851283del, NC_000018.10:g.76851275_76851283del, NC_000018.10:g.76851277_76851283del, NC_000018.10:g.76851279_76851283del, NC_000018.10:g.76851280_76851283del, NC_000018.10:g.76851281_76851283del, NC_000018.10:g.76851282_76851283del, NC_000018.10:g.76851283del, NC_000018.10:g.76851283dup, NC_000018.10:g.76851282_76851283dup, NC_000018.10:g.76851281_76851283dup, NC_000018.10:g.76851280_76851283dup, NC_000018.10:g.76851279_76851283dup, NC_000018.10:g.76851276_76851283dup, NC_000018.9:g.74563228_74563239del, NC_000018.9:g.74563229_74563239del, NC_000018.9:g.74563230_74563239del, NC_000018.9:g.74563231_74563239del, NC_000018.9:g.74563233_74563239del, NC_000018.9:g.74563235_74563239del, NC_000018.9:g.74563236_74563239del, NC_000018.9:g.74563237_74563239del, NC_000018.9:g.74563238_74563239del, NC_000018.9:g.74563239del, NC_000018.9:g.74563239dup, NC_000018.9:g.74563238_74563239dup, NC_000018.9:g.74563237_74563239dup, NC_000018.9:g.74563236_74563239dup, NC_000018.9:g.74563235_74563239dup, NC_000018.9:g.74563232_74563239dup
20.
rs1491192776 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 18:76846663
(GRCh38)
18:74558620
(GRCh37)
- Canonical SPDI:
- NC_000018.10:76846663:A:AA
- Gene:
- ZNF236 (Varview), LOC105372214 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS: