Links from Gene
Items: 1 to 20 of 38612
1.
rs1491563343 has merged into rs111962610 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:39640737
(GRCh38)
15:39932938
(GRCh37)
- Canonical SPDI:
- NC_000015.10:39640727:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:39640727:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:39640727:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:39640727:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:39640727:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:39640727:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:39640727:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:39640727:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:39640727:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:39640727:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
- Gene:
- FSIP1 (Varview), LOC105370785 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
A=0.275/11
(GENOME_DK)
- HGVS:
NC_000015.10:g.39640737_39640743del, NC_000015.10:g.39640738_39640743del, NC_000015.10:g.39640740_39640743del, NC_000015.10:g.39640741_39640743del, NC_000015.10:g.39640742_39640743del, NC_000015.10:g.39640743del, NC_000015.10:g.39640743dup, NC_000015.10:g.39640742_39640743dup, NC_000015.10:g.39640741_39640743dup, NC_000015.10:g.39640739_39640743dup, NC_000015.9:g.39932938_39932944del, NC_000015.9:g.39932939_39932944del, NC_000015.9:g.39932941_39932944del, NC_000015.9:g.39932942_39932944del, NC_000015.9:g.39932943_39932944del, NC_000015.9:g.39932944del, NC_000015.9:g.39932944dup, NC_000015.9:g.39932943_39932944dup, NC_000015.9:g.39932942_39932944dup, NC_000015.9:g.39932940_39932944dup, XR_932156.3:n.513_519del, XR_932156.3:n.514_519del, XR_932156.3:n.516_519del, XR_932156.3:n.517_519del, XR_932156.3:n.518_519del, XR_932156.3:n.519del, XR_932156.3:n.519dup, XR_932156.3:n.518_519dup, XR_932156.3:n.517_519dup, XR_932156.3:n.515_519dup, XR_932156.2:n.890_896del, XR_932156.2:n.891_896del, XR_932156.2:n.893_896del, XR_932156.2:n.894_896del, XR_932156.2:n.895_896del, XR_932156.2:n.896del, XR_932156.2:n.896dup, XR_932156.2:n.895_896dup, XR_932156.2:n.894_896dup, XR_932156.2:n.892_896dup, XR_932156.1:n.532_538del, XR_932156.1:n.533_538del, XR_932156.1:n.535_538del, XR_932156.1:n.536_538del, XR_932156.1:n.537_538del, XR_932156.1:n.538del, XR_932156.1:n.538dup, XR_932156.1:n.537_538dup, XR_932156.1:n.536_538dup, XR_932156.1:n.534_538dup
2.
rs1491552006 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CA
[Show Flanks]
- Chromosome:
- 15:39640728
(GRCh38)
15:39932930
(GRCh37)
- Canonical SPDI:
- NC_000015.10:39640728:A:ACA
- Gene:
- FSIP1 (Varview), LOC105370785 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
ACA=0./0
(
ALFA)
AC=0.00001/1
(GnomAD)
- HGVS:
3.
rs1491525469 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 15:39638842
(GRCh38)
15:39931043
(GRCh37)
- Canonical SPDI:
- NC_000015.10:39638841:AT:
- Gene:
- FSIP1 (Varview), LOC105370785 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
- HGVS:
4.
rs1491515147 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 15:39770635
(GRCh38)
15:40062836
(GRCh37)
- Canonical SPDI:
- NC_000015.10:39770633:ACA:A
- Gene:
- FSIP1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000021/3
(GnomAD_exomes)
-=0.000034/3
(ExAC)
-=0.000057/8
(GnomAD)
-=0.000079/21
(TOPMED)
- HGVS:
5.
rs1491500317 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 15:39712207
(GRCh38)
15:40004408
(GRCh37)
- Canonical SPDI:
- NC_000015.10:39712206:GC:
- Gene:
- FSIP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.180089/805
(
ALFA)
-=0.179018/802
(Estonian)
-=0.183333/110
(NorthernSweden)
-=0.232627/32539
(GnomAD)
-=0.265303/1699
(1000Genomes)
-=0.286104/4795
(TOMMO)
- HGVS:
6.
rs1491487388 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 15:39744748
(GRCh38)
15:40036949
(GRCh37)
- Canonical SPDI:
- NC_000015.10:39744746:TGT:T
- Gene:
- FSIP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000337/4
(
ALFA)
-=0.000457/59
(GnomAD)
- HGVS:
7.
rs1491474186 has merged into rs36116816 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA
[Show Flanks]
- Chromosome:
- 15:39662730
(GRCh38)
15:39954931
(GRCh37)
- Canonical SPDI:
- NC_000015.10:39662719:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:39662719:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:39662719:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:39662719:AAAAAAAAAAAAA:AAAAAAAAAAAAAA
- Gene:
- FSIP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0.0028/14
(
ALFA)
A=0.1243/479
(ALSPAC)
A=0.125/5
(GENOME_DK)
A=0.1386/514
(TWINSUK)
A=0.1667/99
(NorthernSweden)
A=0.3375/1690
(1000Genomes)
- HGVS:
8.
rs1491469453 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 15:39662719
(GRCh38)
15:39954920
(GRCh37)
- Canonical SPDI:
- NC_000015.10:39662718:GA:
- Gene:
- FSIP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
-=0.00002/1
(GnomAD)
- HGVS:
10.
rs1491425468 has merged into rs67203634 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC
[Show Flanks]
- Chromosome:
- 15:39626976
(GRCh38)
15:39919177
(GRCh37)
- Canonical SPDI:
- NC_000015.10:39626975:CCCCCC:CCCCC,NC_000015.10:39626975:CCCCCC:CCCCCCC
- Gene:
- FSIP1 (Varview), LOC105370785 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCC=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
12.
rs1491414874 has merged into rs368981039 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTG>-,TGTG,TGTGTGTG
[Show Flanks]
- Chromosome:
- 15:39638849
(GRCh38)
15:39931050
(GRCh37)
- Canonical SPDI:
- NC_000015.10:39638842:TGTGTGTGTGTG:TGTGTG,NC_000015.10:39638842:TGTGTGTGTGTG:TGTGTGTGTG,NC_000015.10:39638842:TGTGTGTGTGTG:TGTGTGTGTGTGTG
- Gene:
- FSIP1 (Varview), LOC105370785 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTG=0./0
(
ALFA)
TG=0.000037/5
(GnomAD)
- HGVS:
13.
rs1491414687 has merged into rs34646792 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA
[Show Flanks]
- Chromosome:
- 15:39738265
(GRCh38)
15:40030466
(GRCh37)
- Canonical SPDI:
- NC_000015.10:39738256:AAAAAAAAAA:AAAAAAAA,NC_000015.10:39738256:AAAAAAAAAA:AAAAAAAAA,NC_000015.10:39738256:AAAAAAAAAA:AAAAAAAAAAA
- Gene:
- FSIP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.069444/15
(Vietnamese)
-=0.164936/826
(1000Genomes)
-=0.260203/68873
(TOPMED)
-=0.372081/1434
(ALSPAC)
-=0.376753/1397
(TWINSUK)
-=0.377902/1693
(Estonian)
-=0.391784/391
(GoNL)
-=0.4/240
(NorthernSweden)
-=0.475/19
(GENOME_DK)
- HGVS:
14.
rs1491345552 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 15:39648167
(GRCh38)
15:39940369
(GRCh37)
- Canonical SPDI:
- NC_000015.10:39648167:T:TT
- Gene:
- FSIP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.00007/1
(TOMMO)
- HGVS:
15.
rs1491343774 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 15:39638829
(GRCh38)
15:39931030
(GRCh37)
- Canonical SPDI:
- NC_000015.10:39638825:GCGCG:GCG
- Gene:
- FSIP1 (Varview), LOC105370785 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GCG=0.000071/1
(
ALFA)
-=0.000014/2
(GnomAD)
- HGVS:
16.
rs1491303806 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 15:39738257
(GRCh38)
15:40030459
(GRCh37)
- Canonical SPDI:
- NC_000015.10:39738257::G
- Gene:
- FSIP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
17.
rs1491294709 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 15:39714972
(GRCh38)
15:40007173
(GRCh37)
- Canonical SPDI:
- NC_000015.10:39714971:CA:
- Gene:
- FSIP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
19.
rs1491171734 has merged into rs35512322 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,AA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:39614653
(GRCh38)
15:39906854
(GRCh37)
- Canonical SPDI:
- NC_000015.10:39614644:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000015.10:39614644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:39614644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:39614644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:39614644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:39614644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:39614644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:39614644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:39614644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:39614644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:39614644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:39614644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:39614644:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- FSIP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
AAA=0.000004/1
(TOPMED)
- HGVS:
NC_000015.10:g.39614653_39614663del, NC_000015.10:g.39614655_39614663del, NC_000015.10:g.39614659_39614663del, NC_000015.10:g.39614660_39614663del, NC_000015.10:g.39614661_39614663del, NC_000015.10:g.39614662_39614663del, NC_000015.10:g.39614663del, NC_000015.10:g.39614663dup, NC_000015.10:g.39614662_39614663dup, NC_000015.10:g.39614661_39614663dup, NC_000015.10:g.39614658_39614663dup, NC_000015.10:g.39614656_39614663dup, NC_000015.10:g.39614663_39614664insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.39906854_39906864del, NC_000015.9:g.39906856_39906864del, NC_000015.9:g.39906860_39906864del, NC_000015.9:g.39906861_39906864del, NC_000015.9:g.39906862_39906864del, NC_000015.9:g.39906863_39906864del, NC_000015.9:g.39906864del, NC_000015.9:g.39906864dup, NC_000015.9:g.39906863_39906864dup, NC_000015.9:g.39906862_39906864dup, NC_000015.9:g.39906859_39906864dup, NC_000015.9:g.39906857_39906864dup, NC_000015.9:g.39906864_39906865insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
20.
rs1491145169 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 15:39614644
(GRCh38)
15:39906845
(GRCh37)
- Canonical SPDI:
- NC_000015.10:39614643:CA:
- Gene:
- FSIP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.0054/64
(
ALFA)
-=0.00149/42
(TOMMO)
- HGVS: