Links from Gene
Items: 1 to 20 of 12801
1.
rs1491420408 has merged into rs113055433 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:212942520
(GRCh38)
1:213115862
(GRCh37)
- Canonical SPDI:
- NC_000001.11:212942510:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:212942510:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:212942510:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:212942510:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:212942510:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:212942510:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:212942510:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:212942510:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.053512/32
(NorthernSweden)
-=0.214257/1073
(1000Genomes)
- HGVS:
NC_000001.11:g.212942520_212942528del, NC_000001.11:g.212942525_212942528del, NC_000001.11:g.212942526_212942528del, NC_000001.11:g.212942527_212942528del, NC_000001.11:g.212942528del, NC_000001.11:g.212942528dup, NC_000001.11:g.212942527_212942528dup, NC_000001.11:g.212942526_212942528dup, NC_000001.10:g.213115862_213115870del, NC_000001.10:g.213115867_213115870del, NC_000001.10:g.213115868_213115870del, NC_000001.10:g.213115869_213115870del, NC_000001.10:g.213115870del, NC_000001.10:g.213115870dup, NC_000001.10:g.213115869_213115870dup, NC_000001.10:g.213115868_213115870dup
2.
rs1491410869 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 1:212989731
(GRCh38)
1:213163073
(GRCh37)
- Canonical SPDI:
- NC_000001.11:212989730:CT:
- Gene:
- VASH2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000001.11:g.212989731_212989732del, NC_000001.10:g.213163073_213163074del, NM_024749.5:c.*1147_*1148del, NM_024749.4:c.*1147_*1148del, NM_024749.3:c.*1147_*1148del, NM_001136474.3:c.*1147_*1148del, NM_001136474.2:c.*1147_*1148del, NM_001136474.1:c.*1147_*1148del, NM_001136475.3:c.*1147_*1148del, NM_001136475.2:c.*1147_*1148del, NM_001136475.1:c.*1147_*1148del, NM_001301056.2:c.*1147_*1148del, NM_001301056.1:c.*1147_*1148del
3.
rs1491343641 has merged into rs113122383 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT
[Show Flanks]
- Chromosome:
- 1:212962987
(GRCh38)
1:213136329
(GRCh37)
- Canonical SPDI:
- NC_000001.11:212962977:TTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:212962977:TTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:212962977:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:212962977:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:212962977:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:212962977:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:212962977:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:212962977:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- VASH2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.09509/428
(1000Genomes)
- HGVS:
NC_000001.11:g.212962987_212962989del, NC_000001.11:g.212962988_212962989del, NC_000001.11:g.212962989del, NC_000001.11:g.212962989dup, NC_000001.11:g.212962988_212962989dup, NC_000001.11:g.212962987_212962989dup, NC_000001.11:g.212962986_212962989dup, NC_000001.11:g.212962985_212962989dup, NC_000001.10:g.213136329_213136331del, NC_000001.10:g.213136330_213136331del, NC_000001.10:g.213136331del, NC_000001.10:g.213136331dup, NC_000001.10:g.213136330_213136331dup, NC_000001.10:g.213136329_213136331dup, NC_000001.10:g.213136328_213136331dup, NC_000001.10:g.213136327_213136331dup
4.
rs1491294855 has merged into rs140070220 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 1:212959278
(GRCh38)
1:213132620
(GRCh37)
- Canonical SPDI:
- NC_000001.11:212959266:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGT,NC_000001.11:212959266:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000001.11:212959266:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000001.11:212959266:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000001.11:212959266:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000001.11:212959266:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:212959266:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:212959266:TGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- VASH2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGT=0./0
(
ALFA)
TG=0.3221/1613
(1000Genomes)
TG=0.4867/292
(NorthernSweden)
- HGVS:
NC_000001.11:g.212959268GT[5], NC_000001.11:g.212959268GT[6], NC_000001.11:g.212959268GT[7], NC_000001.11:g.212959268GT[8], NC_000001.11:g.212959268GT[10], NC_000001.11:g.212959268GT[11], NC_000001.11:g.212959268GT[12], NC_000001.11:g.212959268GT[14], NC_000001.10:g.213132610GT[5], NC_000001.10:g.213132610GT[6], NC_000001.10:g.213132610GT[7], NC_000001.10:g.213132610GT[8], NC_000001.10:g.213132610GT[10], NC_000001.10:g.213132610GT[11], NC_000001.10:g.213132610GT[12], NC_000001.10:g.213132610GT[14]
5.
rs1491104484 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 1:212942510
(GRCh38)
1:213115852
(GRCh37)
- Canonical SPDI:
- NC_000001.11:212942509:CT:
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.004131/49
(
ALFA)
-=0.00406/26
(1000Genomes)
-=0.006198/816
(GnomAD)
- HGVS:
6.
rs1491079062 has merged into rs775872523 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-,TGTG
[Show Flanks]
- Chromosome:
- 1:212952370
(GRCh38)
1:213125712
(GRCh37)
- Canonical SPDI:
- NC_000001.11:212952355:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000001.11:212952355:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG
- Gene:
- VASH2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
-=0.000045/12
(TOPMED)
TG=0.00006/1
(TOMMO)
- HGVS:
7.
rs1491004443 has merged into rs111890314 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA
[Show Flanks]
- Chromosome:
- 1:212970907
(GRCh38)
1:213144249
(GRCh37)
- Canonical SPDI:
- NC_000001.11:212970898:AAAAAAAAAA:AAAAAAAA,NC_000001.11:212970898:AAAAAAAAAA:AAAAAAAAA,NC_000001.11:212970898:AAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:212970898:AAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:212970898:AAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:212970898:AAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:212970898:AAAAAAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- VASH2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
AAAA=0.094432/173
(Korea1K)
- HGVS:
NC_000001.11:g.212970907_212970908del, NC_000001.11:g.212970908del, NC_000001.11:g.212970908dup, NC_000001.11:g.212970906_212970908dup, NC_000001.11:g.212970905_212970908dup, NC_000001.11:g.212970904_212970908dup, NC_000001.11:g.212970903_212970908dup, NC_000001.10:g.213144249_213144250del, NC_000001.10:g.213144250del, NC_000001.10:g.213144250dup, NC_000001.10:g.213144248_213144250dup, NC_000001.10:g.213144247_213144250dup, NC_000001.10:g.213144246_213144250dup, NC_000001.10:g.213144245_213144250dup
8.
rs1490983198 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 1:212973407
(GRCh38)
1:213146749
(GRCh37)
- Canonical SPDI:
- NC_000001.11:212973406:T:A,NC_000001.11:212973406:T:C
- Gene:
- VASH2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD_exomes)
- HGVS:
9.
rs1490981537 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:212984085
(GRCh38)
1:213157427
(GRCh37)
- Canonical SPDI:
- NC_000001.11:212984084:A:G
- Gene:
- VASH2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000035/1
(TOMMO)
- HGVS:
10.
rs1490846140 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:212950777
(GRCh38)
1:213124119
(GRCh37)
- Canonical SPDI:
- NC_000001.11:212950776:G:A,NC_000001.11:212950776:G:C
- Gene:
- VASH2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000029/4
(GnomAD)
A=0.000045/12
(TOPMED)
A=0.000156/1
(1000Genomes)
A=0.000319/5
(TOMMO)
A=0.000343/1
(KOREAN)
G=0.5/1
(SGDP_PRJ)
- HGVS:
11.
rs1490793891 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:212935953
(GRCh38)
1:213109295
(GRCh37)
- Canonical SPDI:
- NC_000001.11:212935952:G:A
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490786768 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:212984720
(GRCh38)
1:213158062
(GRCh37)
- Canonical SPDI:
- NC_000001.11:212984719:C:A,NC_000001.11:212984719:C:T
- Gene:
- VASH2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
13.
rs1490719476 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:212952050
(GRCh38)
1:213125392
(GRCh37)
- Canonical SPDI:
- NC_000001.11:212952049:A:T
- Gene:
- VASH2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490664630 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:212976783
(GRCh38)
1:213150125
(GRCh37)
- Canonical SPDI:
- NC_000001.11:212976782:C:T
- Gene:
- VASH2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1490629712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:212936489
(GRCh38)
1:213109831
(GRCh37)
- Canonical SPDI:
- NC_000001.11:212936488:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490614979 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCT>-
[Show Flanks]
- Chromosome:
- 1:212965217
(GRCh38)
1:213138559
(GRCh37)
- Canonical SPDI:
- NC_000001.11:212965214:CTTCT:CT
- Gene:
- VASH2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CT=0.000071/1
(
ALFA)
-=0.000021/3
(GnomAD)
-=0.00003/8
(TOPMED)
- HGVS:
17.
rs1490578063 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:212937461
(GRCh38)
1:213110803
(GRCh37)
- Canonical SPDI:
- NC_000001.11:212937460:T:C
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490564369 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:212938723
(GRCh38)
1:213112065
(GRCh37)
- Canonical SPDI:
- NC_000001.11:212938722:T:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490529357 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:212953274
(GRCh38)
1:213126616
(GRCh37)
- Canonical SPDI:
- NC_000001.11:212953273:G:A
- Gene:
- VASH2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490492169 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:212983172
(GRCh38)
1:213156514
(GRCh37)
- Canonical SPDI:
- NC_000001.11:212983171:T:C
- Gene:
- VASH2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS: