Links from Gene
Items: 1 to 20 of 5797
1.
rs1491531996 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 14:96373253
(GRCh38)
14:96839590
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96373251:AGA:A
- Gene:
- GSKIP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000344/45
(GnomAD)
- HGVS:
2.
rs1491376313 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 14:96366747
(GRCh38)
14:96833085
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96366747:AAAAAA:AAAAAAA
- Gene:
- GSKIP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAAAAA=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
3.
rs1491357949 has merged into rs57931398 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:96373238
(GRCh38)
14:96839575
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96373229:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000014.9:96373229:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:96373229:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:96373229:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:96373229:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:96373229:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:96373229:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:96373229:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:96373229:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:96373229:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:96373229:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:96373229:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:96373229:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:96373229:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:96373229:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:96373229:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:96373229:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:96373229:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:96373229:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:96373229:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:96373229:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:96373229:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:96373229:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:96373229:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:96373229:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:96373229:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:96373229:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- GSKIP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.96373238_96373252del, NC_000014.9:g.96373239_96373252del, NC_000014.9:g.96373240_96373252del, NC_000014.9:g.96373241_96373252del, NC_000014.9:g.96373242_96373252del, NC_000014.9:g.96373243_96373252del, NC_000014.9:g.96373244_96373252del, NC_000014.9:g.96373245_96373252del, NC_000014.9:g.96373246_96373252del, NC_000014.9:g.96373247_96373252del, NC_000014.9:g.96373248_96373252del, NC_000014.9:g.96373249_96373252del, NC_000014.9:g.96373250_96373252del, NC_000014.9:g.96373251_96373252del, NC_000014.9:g.96373252del, NC_000014.9:g.96373252dup, NC_000014.9:g.96373251_96373252dup, NC_000014.9:g.96373250_96373252dup, NC_000014.9:g.96373249_96373252dup, NC_000014.9:g.96373248_96373252dup, NC_000014.9:g.96373247_96373252dup, NC_000014.9:g.96373246_96373252dup, NC_000014.9:g.96373245_96373252dup, NC_000014.9:g.96373244_96373252dup, NC_000014.9:g.96373240_96373252dup, NC_000014.9:g.96373234_96373252dup, NC_000014.9:g.96373230_96373252dup, NC_000014.8:g.96839575_96839589del, NC_000014.8:g.96839576_96839589del, NC_000014.8:g.96839577_96839589del, NC_000014.8:g.96839578_96839589del, NC_000014.8:g.96839579_96839589del, NC_000014.8:g.96839580_96839589del, NC_000014.8:g.96839581_96839589del, NC_000014.8:g.96839582_96839589del, NC_000014.8:g.96839583_96839589del, NC_000014.8:g.96839584_96839589del, NC_000014.8:g.96839585_96839589del, NC_000014.8:g.96839586_96839589del, NC_000014.8:g.96839587_96839589del, NC_000014.8:g.96839588_96839589del, NC_000014.8:g.96839589del, NC_000014.8:g.96839589dup, NC_000014.8:g.96839588_96839589dup, NC_000014.8:g.96839587_96839589dup, NC_000014.8:g.96839586_96839589dup, NC_000014.8:g.96839585_96839589dup, NC_000014.8:g.96839584_96839589dup, NC_000014.8:g.96839583_96839589dup, NC_000014.8:g.96839582_96839589dup, NC_000014.8:g.96839581_96839589dup, NC_000014.8:g.96839577_96839589dup, NC_000014.8:g.96839571_96839589dup, NC_000014.8:g.96839567_96839589dup
4.
rs1491324070 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 14:96373252
(GRCh38)
14:96839590
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96373252:G:GG
- Gene:
- GSKIP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
5.
rs1491246799 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 14:96375437
(GRCh38)
14:96841775
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96375437::C
- Gene:
- GSKIP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00008/1
(
ALFA)
C=0.00004/1
(TOMMO)
C=0.00041/12
(GnomAD)
- HGVS:
7.
rs1491110077 has merged into rs202163260 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 14:96375448
(GRCh38)
14:96841785
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96375436:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:96375436:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:96375436:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:96375436:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:96375436:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:96375436:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- GSKIP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.2/8
(GENOME_DK)
-=0.2764/157
(NorthernSweden)
-=0.3726/1866
(1000Genomes)
- HGVS:
NC_000014.9:g.96375448_96375451del, NC_000014.9:g.96375449_96375451del, NC_000014.9:g.96375450_96375451del, NC_000014.9:g.96375451del, NC_000014.9:g.96375451dup, NC_000014.9:g.96375450_96375451dup, NC_000014.8:g.96841785_96841788del, NC_000014.8:g.96841786_96841788del, NC_000014.8:g.96841787_96841788del, NC_000014.8:g.96841788del, NC_000014.8:g.96841788dup, NC_000014.8:g.96841787_96841788dup
8.
rs1490966933 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:96387049
(GRCh38)
14:96853386
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96387048:C:T
- Gene:
- GSKIP (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000084/1
(
ALFA)
T=0.000019/5
(TOPMED)
- HGVS:
9.
rs1490795354 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:96369441
(GRCh38)
14:96835778
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96369440:A:G
- Gene:
- GSKIP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490528736 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:96386434
(GRCh38)
14:96852771
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96386433:C:T
- Gene:
- GSKIP (Varview)
- Functional Consequence:
- 3_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)
- HGVS:
11.
rs1490502014 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 14:96385667
(GRCh38)
14:96852004
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96385666:A:G,NC_000014.9:96385666:A:T
- Gene:
- GSKIP (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,stop_gained
- HGVS:
NC_000014.9:g.96385667A>G, NC_000014.9:g.96385667A>T, NC_000014.8:g.96852004A>G, NC_000014.8:g.96852004A>T, NM_016472.5:c.403A>G, NM_016472.5:c.403A>T, NM_016472.4:c.403A>G, NM_016472.4:c.403A>T, NM_001271905.2:c.403A>G, NM_001271905.2:c.403A>T, NM_001271905.1:c.403A>G, NM_001271905.1:c.403A>T, NM_001271906.2:c.403A>G, NM_001271906.2:c.403A>T, NM_001271906.1:c.403A>G, NM_001271906.1:c.403A>T, NM_001271904.1:c.403A>G, NM_001271904.1:c.403A>T, NP_057556.2:p.Arg135Gly, NP_057556.2:p.Arg135Ter, NP_001258834.1:p.Arg135Gly, NP_001258834.1:p.Arg135Ter, NP_001258835.1:p.Arg135Gly, NP_001258835.1:p.Arg135Ter, NP_001258833.1:p.Arg135Gly, NP_001258833.1:p.Arg135Ter
12.
rs1490477141 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:96363322
(GRCh38)
14:96829659
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96363321:C:G
- Gene:
- GSKIP (Varview), ATG2B (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
13.
rs1490410370 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:96377243
(GRCh38)
14:96843580
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96377242:G:A
- Gene:
- GSKIP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490323660 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:96370622
(GRCh38)
14:96836959
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96370621:C:G
- Gene:
- GSKIP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490168170 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:96376352
(GRCh38)
14:96842689
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96376351:C:T
- Gene:
- GSKIP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
16.
rs1490148299 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 14:96362642
(GRCh38)
14:96828979
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96362641:CT:
- Gene:
- GSKIP (Varview), ATG2B (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
17.
rs1489948438 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:96378007
(GRCh38)
14:96844344
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96378006:A:G
- Gene:
- GSKIP (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:
18.
rs1489820850 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:96386441
(GRCh38)
14:96852778
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96386440:A:G
- Gene:
- GSKIP (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1489580612 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:96361569
(GRCh38)
14:96827906
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96361568:A:G
- Gene:
- GSKIP (Varview), ATG2B (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1489271253 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:96386378
(GRCh38)
14:96852715
(GRCh37)
- Canonical SPDI:
- NC_000014.9:96386377:T:C
- Gene:
- GSKIP (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS: