Links from Gene
Items: 1 to 20 of 27961
1.
rs1491509528 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 10:79028909
(GRCh38)
10:80788666
(GRCh37)
- Canonical SPDI:
- NC_000010.11:79028908:CT:
- Gene:
- ZMIZ1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000506/6
(
ALFA)
-=0.000984/100
(GnomAD)
-=0.00303/51
(TOMMO)
- HGVS:
3.
rs1491469325 has merged into rs60756550 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGG>-,G,GG,GGGG,GGGGG
[Show Flanks]
- Chromosome:
- 10:79024119
(GRCh38)
10:80783876
(GRCh37)
- Canonical SPDI:
- NC_000010.11:79024110:GGGGGGGGGGG:GGGGGGGG,NC_000010.11:79024110:GGGGGGGGGGG:GGGGGGGGG,NC_000010.11:79024110:GGGGGGGGGGG:GGGGGGGGGG,NC_000010.11:79024110:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000010.11:79024110:GGGGGGGGGGG:GGGGGGGGGGGGG
- Gene:
- ZMIZ1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGGG=0./0
(
ALFA)
-=0.2887/153
(NorthernSweden)
- HGVS:
4.
rs1491443204 has merged into rs368491905 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 10:79028925
(GRCh38)
10:80788682
(GRCh37)
- Canonical SPDI:
- NC_000010.11:79028909:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:79028909:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:79028909:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:79028909:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:79028909:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:79028909:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZMIZ1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.0603/27
(NorthernSweden)
- HGVS:
NC_000010.11:g.79028925_79028928del, NC_000010.11:g.79028926_79028928del, NC_000010.11:g.79028927_79028928del, NC_000010.11:g.79028928del, NC_000010.11:g.79028928dup, NC_000010.11:g.79028927_79028928dup, NC_000010.10:g.80788682_80788685del, NC_000010.10:g.80788683_80788685del, NC_000010.10:g.80788684_80788685del, NC_000010.10:g.80788685del, NC_000010.10:g.80788685dup, NC_000010.10:g.80788684_80788685dup
5.
rs1491414653 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CG,TG
[Show Flanks]
- Chromosome:
- 10:79024111
(GRCh38)
10:80783869
(GRCh37)
- Canonical SPDI:
- NC_000010.11:79024111:G:GCG,NC_000010.11:79024111:G:GTG
- Gene:
- ZMIZ1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
GC=0.00006/1
(TOMMO)
- HGVS:
6.
rs1491414365 has merged into rs36037231 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGA>-,GA,GAGAGA,GAGAGAGA
[Show Flanks]
- Chromosome:
- 10:79031443
(GRCh38)
10:80791200
(GRCh37)
- Canonical SPDI:
- NC_000010.11:79031429:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGA,NC_000010.11:79031429:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000010.11:79031429:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000010.11:79031429:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA
- Gene:
- ZMIZ1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAGAGAGAGA=0./0
(
ALFA)
AG=0.051843/260
(1000Genomes)
AG=0.086403/22870
(TOPMED)
AG=0.116667/70
(NorthernSweden)
AG=0.122098/547
(Estonian)
AG=0.146293/146
(GoNL)
- HGVS:
7.
rs1491403406 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 10:78957848
(GRCh38)
10:80717605
(GRCh37)
- Canonical SPDI:
- NC_000010.11:78957847:TG:
- Gene:
- ZMIZ1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.000014/2
(GnomAD)
- HGVS:
9.
rs1491390983 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 10:79049605
(GRCh38)
10:80809362
(GRCh37)
- Canonical SPDI:
- NC_000010.11:79049603:CGC:C
- Gene:
- ZMIZ1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.01821/216
(
ALFA)
-=0.00015/2
(TOMMO)
-=0.00111/2
(Korea1K)
-=0.02009/617
(GnomAD)
- HGVS:
10.
rs1491361105 has merged into rs386371915 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 10:78976352
(GRCh38)
10:80736109
(GRCh37)
- Canonical SPDI:
- NC_000010.11:78976339:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:78976339:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:78976339:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:78976339:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:78976339:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:78976339:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:78976339:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:78976339:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:78976339:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:78976339:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:78976339:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:78976339:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:78976339:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZMIZ1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
TT=0.16909/627
(TWINSUK)
TT=0.19201/740
(ALSPAC)
- HGVS:
NC_000010.11:g.78976352_78976356del, NC_000010.11:g.78976353_78976356del, NC_000010.11:g.78976354_78976356del, NC_000010.11:g.78976355_78976356del, NC_000010.11:g.78976356del, NC_000010.11:g.78976356dup, NC_000010.11:g.78976355_78976356dup, NC_000010.11:g.78976354_78976356dup, NC_000010.11:g.78976353_78976356dup, NC_000010.11:g.78976352_78976356dup, NC_000010.11:g.78976351_78976356dup, NC_000010.11:g.78976349_78976356dup, NC_000010.11:g.78976356_78976357insTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.80736109_80736113del, NC_000010.10:g.80736110_80736113del, NC_000010.10:g.80736111_80736113del, NC_000010.10:g.80736112_80736113del, NC_000010.10:g.80736113del, NC_000010.10:g.80736113dup, NC_000010.10:g.80736112_80736113dup, NC_000010.10:g.80736111_80736113dup, NC_000010.10:g.80736110_80736113dup, NC_000010.10:g.80736109_80736113dup, NC_000010.10:g.80736108_80736113dup, NC_000010.10:g.80736106_80736113dup, NC_000010.10:g.80736113_80736114insTTTTTTTTTTTTTTTTTTTT
12.
rs1491220605 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTT
[Show Flanks]
- Chromosome:
- 10:78976340
(GRCh38)
10:80736098
(GRCh37)
- Canonical SPDI:
- NC_000010.11:78976340:TT:TTCTT
- Gene:
- ZMIZ1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTCTT=0.00008/1
(
ALFA)
TTC=0.00004/3
(GnomAD)
- HGVS:
15.
rs1491112341 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CGGA
[Show Flanks]
- Chromosome:
- 10:78957848
(GRCh38)
10:80717606
(GRCh37)
- Canonical SPDI:
- NC_000010.11:78957848:GGA:GGACGGA
- Gene:
- ZMIZ1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GGACGGA=0./0
(
ALFA)
GGAC=0.000004/1
(TOPMED)
- HGVS:
16.
rs1491055631 has merged into rs35975465 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 10:79062496
(GRCh38)
10:80822253
(GRCh37)
- Canonical SPDI:
- NC_000010.11:79062488:AAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000010.11:79062488:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:79062488:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:79062488:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:79062488:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:79062488:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:79062488:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:79062488:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:79062488:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:79062488:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZMIZ1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.375/3
(KOREAN)
- HGVS:
NC_000010.11:g.79062496_79062506del, NC_000010.11:g.79062500_79062506del, NC_000010.11:g.79062503_79062506del, NC_000010.11:g.79062504_79062506del, NC_000010.11:g.79062505_79062506del, NC_000010.11:g.79062506del, NC_000010.11:g.79062506dup, NC_000010.11:g.79062505_79062506dup, NC_000010.11:g.79062504_79062506dup, NC_000010.11:g.79062503_79062506dup, NC_000010.10:g.80822253_80822263del, NC_000010.10:g.80822257_80822263del, NC_000010.10:g.80822260_80822263del, NC_000010.10:g.80822261_80822263del, NC_000010.10:g.80822262_80822263del, NC_000010.10:g.80822263del, NC_000010.10:g.80822263dup, NC_000010.10:g.80822262_80822263dup, NC_000010.10:g.80822261_80822263dup, NC_000010.10:g.80822260_80822263dup
17.
rs1491040197 has merged into rs34771208 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT
[Show Flanks]
- Chromosome:
- 10:78991655
(GRCh38)
10:80751412
(GRCh37)
- Canonical SPDI:
- NC_000010.11:78991644:TTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:78991644:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:78991644:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:78991644:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:78991644:TTTTTTTTTTTT:TTTTTTTTTTTTTTT
- Gene:
- ZMIZ1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.315/1168
(TWINSUK)
T=0.3394/1308
(ALSPAC)
- HGVS:
18.
rs1490992923 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:79055203
(GRCh38)
10:80814960
(GRCh37)
- Canonical SPDI:
- NC_000010.11:79055202:A:G
- Gene:
- ZMIZ1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490973159 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:79001601
(GRCh38)
10:80761358
(GRCh37)
- Canonical SPDI:
- NC_000010.11:79001600:A:G
- Gene:
- ZMIZ1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490954524 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 10:79016098
(GRCh38)
10:80775855
(GRCh37)
- Canonical SPDI:
- NC_000010.11:79016097:C:G
- Gene:
- ZMIZ1-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS: