Links from Gene
Items: 1 to 20 of 1000
1.
rs1491570131 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 5:55500097
(GRCh38)
5:54795925
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55500096:TG:
- Gene:
- PLPP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.07887/1286
(
ALFA)
-=0.00195/55
(TOMMO)
- HGVS:
2.
rs1491542435 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,AA,TA
[Show Flanks]
- Chromosome:
- 5:55491859
(GRCh38)
5:54787688
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55491859::A,NC_000005.10:55491859::AA,NC_000005.10:55491859::TA
- Gene:
- PLPP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
TA=0.00116/18
(TOMMO)
AA=0.00422/25
(GnomAD)
- HGVS:
3.
rs1491539538 has merged into rs11352656 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 5:55479036
(GRCh38)
5:54774864
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55479023:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:55479023:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:55479023:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:55479023:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:55479023:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:55479023:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:55479023:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:55479023:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PLPP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.408/244
(NorthernSweden)
T=0.4203/2105
(1000Genomes)
- HGVS:
NC_000005.10:g.55479036_55479041del, NC_000005.10:g.55479038_55479041del, NC_000005.10:g.55479039_55479041del, NC_000005.10:g.55479040_55479041del, NC_000005.10:g.55479041del, NC_000005.10:g.55479041dup, NC_000005.10:g.55479040_55479041dup, NC_000005.10:g.55479033_55479041dup, NC_000005.9:g.54774864_54774869del, NC_000005.9:g.54774866_54774869del, NC_000005.9:g.54774867_54774869del, NC_000005.9:g.54774868_54774869del, NC_000005.9:g.54774869del, NC_000005.9:g.54774869dup, NC_000005.9:g.54774868_54774869dup, NC_000005.9:g.54774861_54774869dup
5.
rs1491501046 has merged into rs879406977 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT
[Show Flanks]
- Chromosome:
- 5:55444743
(GRCh38)
5:54740571
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55444740:TTTT:TT,NC_000005.10:55444740:TTTT:TTT,NC_000005.10:55444740:TTTT:TTTTT
- Gene:
- PLPP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0./0
(
ALFA)
-=0.00004/1
(TOMMO)
-=0.0045/2
(NorthernSweden)
-=0.00541/83
(GnomAD)
-=0.03991/148
(TWINSUK)
- HGVS:
6.
rs1491470866 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 5:55512528
(GRCh38)
5:54808356
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55512526:AGA:A
- Gene:
- PLPP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.0006/5
(GnomAD)
- HGVS:
8.
rs1491430578 has merged into rs70995703 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:55504535
(GRCh38)
5:54800363
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55504524:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:55504524:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:55504524:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:55504524:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:55504524:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:55504524:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:55504524:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:55504524:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:55504524:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:55504524:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55504524:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55504524:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55504524:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55504524:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55504524:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55504524:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55504524:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55504524:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55504524:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55504524:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55504524:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PLPP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000005.10:g.55504535_55504549del, NC_000005.10:g.55504536_55504549del, NC_000005.10:g.55504537_55504549del, NC_000005.10:g.55504539_55504549del, NC_000005.10:g.55504540_55504549del, NC_000005.10:g.55504542_55504549del, NC_000005.10:g.55504543_55504549del, NC_000005.10:g.55504544_55504549del, NC_000005.10:g.55504545_55504549del, NC_000005.10:g.55504546_55504549del, NC_000005.10:g.55504547_55504549del, NC_000005.10:g.55504548_55504549del, NC_000005.10:g.55504549del, NC_000005.10:g.55504549dup, NC_000005.10:g.55504548_55504549dup, NC_000005.10:g.55504547_55504549dup, NC_000005.10:g.55504545_55504549dup, NC_000005.10:g.55504544_55504549dup, NC_000005.10:g.55504541_55504549dup, NC_000005.10:g.55504539_55504549dup, NC_000005.10:g.55504535_55504549dup, NC_000005.9:g.54800363_54800377del, NC_000005.9:g.54800364_54800377del, NC_000005.9:g.54800365_54800377del, NC_000005.9:g.54800367_54800377del, NC_000005.9:g.54800368_54800377del, NC_000005.9:g.54800370_54800377del, NC_000005.9:g.54800371_54800377del, NC_000005.9:g.54800372_54800377del, NC_000005.9:g.54800373_54800377del, NC_000005.9:g.54800374_54800377del, NC_000005.9:g.54800375_54800377del, NC_000005.9:g.54800376_54800377del, NC_000005.9:g.54800377del, NC_000005.9:g.54800377dup, NC_000005.9:g.54800376_54800377dup, NC_000005.9:g.54800375_54800377dup, NC_000005.9:g.54800373_54800377dup, NC_000005.9:g.54800372_54800377dup, NC_000005.9:g.54800369_54800377dup, NC_000005.9:g.54800367_54800377dup, NC_000005.9:g.54800363_54800377dup
10.
rs1491411328 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 5:55521351
(GRCh38)
5:54817179
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55521350:CA:
- Gene:
- PLPP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00008/1
(
ALFA)
-=0.00016/1
(1000Genomes)
-=0.00021/7
(GnomAD)
- HGVS:
11.
rs1491384907 has merged into rs879406977 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT
[Show Flanks]
- Chromosome:
- 5:55444743
(GRCh38)
5:54740571
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55444740:TTTT:TT,NC_000005.10:55444740:TTTT:TTT,NC_000005.10:55444740:TTTT:TTTTT
- Gene:
- PLPP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0./0
(
ALFA)
-=0.00004/1
(TOMMO)
-=0.0045/2
(NorthernSweden)
-=0.00541/83
(GnomAD)
-=0.03991/148
(TWINSUK)
- HGVS:
12.
rs1491350528 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 5:55503733
(GRCh38)
5:54799562
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55503733::A
- Gene:
- PLPP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000015/2
(GnomAD)
A=0.000546/1
(Korea1K)
A=0.00177/30
(TOMMO)
- HGVS:
13.
rs1491334002 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 5:55503733
(GRCh38)
5:54799561
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55503732:CG:
- Gene:
- PLPP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.000008/1
(GnomAD)
- HGVS:
14.
rs1491316174 has merged into rs1178247543 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:55443187
(GRCh38)
5:54739015
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55443177:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:55443177:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:55443177:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:55443177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:55443177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:55443177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:55443177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:55443177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:55443177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:55443177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:55443177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:55443177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55443177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55443177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55443177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55443177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55443177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55443177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55443177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55443177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55443177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55443177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55443177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:55443177:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PLPP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000005.10:g.55443187_55443193del, NC_000005.10:g.55443188_55443193del, NC_000005.10:g.55443189_55443193del, NC_000005.10:g.55443190_55443193del, NC_000005.10:g.55443191_55443193del, NC_000005.10:g.55443192_55443193del, NC_000005.10:g.55443193del, NC_000005.10:g.55443193dup, NC_000005.10:g.55443192_55443193dup, NC_000005.10:g.55443191_55443193dup, NC_000005.10:g.55443190_55443193dup, NC_000005.10:g.55443189_55443193dup, NC_000005.10:g.55443188_55443193dup, NC_000005.10:g.55443187_55443193dup, NC_000005.10:g.55443186_55443193dup, NC_000005.10:g.55443185_55443193dup, NC_000005.10:g.55443184_55443193dup, NC_000005.10:g.55443183_55443193dup, NC_000005.10:g.55443182_55443193dup, NC_000005.10:g.55443181_55443193dup, NC_000005.10:g.55443180_55443193dup, NC_000005.10:g.55443179_55443193dup, NC_000005.10:g.55443193_55443194insAAAAAAAAAAAAAAAAA, NC_000005.10:g.55443193_55443194insAAAAAAAAAAAAAAAAAA, NC_000005.9:g.54739015_54739021del, NC_000005.9:g.54739016_54739021del, NC_000005.9:g.54739017_54739021del, NC_000005.9:g.54739018_54739021del, NC_000005.9:g.54739019_54739021del, NC_000005.9:g.54739020_54739021del, NC_000005.9:g.54739021del, NC_000005.9:g.54739021dup, NC_000005.9:g.54739020_54739021dup, NC_000005.9:g.54739019_54739021dup, NC_000005.9:g.54739018_54739021dup, NC_000005.9:g.54739017_54739021dup, NC_000005.9:g.54739016_54739021dup, NC_000005.9:g.54739015_54739021dup, NC_000005.9:g.54739014_54739021dup, NC_000005.9:g.54739013_54739021dup, NC_000005.9:g.54739012_54739021dup, NC_000005.9:g.54739011_54739021dup, NC_000005.9:g.54739010_54739021dup, NC_000005.9:g.54739009_54739021dup, NC_000005.9:g.54739008_54739021dup, NC_000005.9:g.54739007_54739021dup, NC_000005.9:g.54739021_54739022insAAAAAAAAAAAAAAAAA, NC_000005.9:g.54739021_54739022insAAAAAAAAAAAAAAAAAA
15.
rs1491290640 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 5:55500077
(GRCh38)
5:54795905
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55500076:AT:
- Gene:
- PLPP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000169/2
(
ALFA)
-=0.000047/5
(GnomAD)
-=0.002498/16
(1000Genomes)
- HGVS:
17.
rs1491207763 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 5:55477051
(GRCh38)
5:54772879
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55477049:ATA:A
- Gene:
- PLPP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00034/4
(
ALFA)
-=0.00016/1
(1000Genomes)
-=0.00085/14
(TOMMO)
-=0.00103/62
(GnomAD)
-=0.0159/29
(Korea1K)
- HGVS:
20.
rs1491145168 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TTA,TTTA
[Show Flanks]
- Chromosome:
- 5:55500097
(GRCh38)
5:54795926
(GRCh37)
- Canonical SPDI:
- NC_000005.10:55500097::TTA,NC_000005.10:55500097::TTTA
- Gene:
- PLPP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
TTA=0.00003/2
(GnomAD)
- HGVS: