Links from Gene
Items: 1 to 20 of 8899
1.
rs1491583668 has merged into rs34144614 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:64583082
(GRCh38)
14:65049800
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64583075:TTTTTTTTTT:TTTTTT,NC_000014.9:64583075:TTTTTTTTTT:TTTTTTT,NC_000014.9:64583075:TTTTTTTTTT:TTTTTTTT,NC_000014.9:64583075:TTTTTTTTTT:TTTTTTTTT,NC_000014.9:64583075:TTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:64583075:TTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:64583075:TTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:64583075:TTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:64583075:TTTTTTTTTT:TTTTTTTTTTTTTTT
- Gene:
- PPP1R36 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.64583082_64583085del, NC_000014.9:g.64583083_64583085del, NC_000014.9:g.64583084_64583085del, NC_000014.9:g.64583085del, NC_000014.9:g.64583085dup, NC_000014.9:g.64583084_64583085dup, NC_000014.9:g.64583083_64583085dup, NC_000014.9:g.64583082_64583085dup, NC_000014.9:g.64583081_64583085dup, NC_000014.8:g.65049800_65049803del, NC_000014.8:g.65049801_65049803del, NC_000014.8:g.65049802_65049803del, NC_000014.8:g.65049803del, NC_000014.8:g.65049803dup, NC_000014.8:g.65049802_65049803dup, NC_000014.8:g.65049801_65049803dup, NC_000014.8:g.65049800_65049803dup, NC_000014.8:g.65049799_65049803dup
3.
rs1491373361 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 14:64560104
(GRCh38)
14:65026823
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64560104::C
- Gene:
- PPP1R36 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
4.
rs1491294715 has merged into rs1171697200 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:64560115
(GRCh38)
14:65026833
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64560103:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PPP1R36 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.64560115_64560133del, NC_000014.9:g.64560116_64560133del, NC_000014.9:g.64560117_64560133del, NC_000014.9:g.64560118_64560133del, NC_000014.9:g.64560119_64560133del, NC_000014.9:g.64560120_64560133del, NC_000014.9:g.64560121_64560133del, NC_000014.9:g.64560122_64560133del, NC_000014.9:g.64560123_64560133del, NC_000014.9:g.64560124_64560133del, NC_000014.9:g.64560125_64560133del, NC_000014.9:g.64560126_64560133del, NC_000014.9:g.64560127_64560133del, NC_000014.9:g.64560128_64560133del, NC_000014.9:g.64560129_64560133del, NC_000014.9:g.64560130_64560133del, NC_000014.9:g.64560131_64560133del, NC_000014.9:g.64560132_64560133del, NC_000014.9:g.64560133del, NC_000014.9:g.64560133dup, NC_000014.9:g.64560132_64560133dup, NC_000014.9:g.64560131_64560133dup, NC_000014.9:g.64560130_64560133dup, NC_000014.9:g.64560129_64560133dup, NC_000014.9:g.64560128_64560133dup, NC_000014.9:g.64560127_64560133dup, NC_000014.9:g.64560126_64560133dup, NC_000014.9:g.64560125_64560133dup, NC_000014.9:g.64560124_64560133dup, NC_000014.9:g.64560123_64560133dup, NC_000014.9:g.64560122_64560133dup, NC_000014.9:g.64560121_64560133dup, NC_000014.9:g.64560120_64560133dup, NC_000014.9:g.64560119_64560133dup, NC_000014.9:g.64560118_64560133dup, NC_000014.9:g.64560113_64560133dup, NC_000014.9:g.64560133_64560134insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.64560133_64560134insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.65026833_65026851del, NC_000014.8:g.65026834_65026851del, NC_000014.8:g.65026835_65026851del, NC_000014.8:g.65026836_65026851del, NC_000014.8:g.65026837_65026851del, NC_000014.8:g.65026838_65026851del, NC_000014.8:g.65026839_65026851del, NC_000014.8:g.65026840_65026851del, NC_000014.8:g.65026841_65026851del, NC_000014.8:g.65026842_65026851del, NC_000014.8:g.65026843_65026851del, NC_000014.8:g.65026844_65026851del, NC_000014.8:g.65026845_65026851del, NC_000014.8:g.65026846_65026851del, NC_000014.8:g.65026847_65026851del, NC_000014.8:g.65026848_65026851del, NC_000014.8:g.65026849_65026851del, NC_000014.8:g.65026850_65026851del, NC_000014.8:g.65026851del, NC_000014.8:g.65026851dup, NC_000014.8:g.65026850_65026851dup, NC_000014.8:g.65026849_65026851dup, NC_000014.8:g.65026848_65026851dup, NC_000014.8:g.65026847_65026851dup, NC_000014.8:g.65026846_65026851dup, NC_000014.8:g.65026845_65026851dup, NC_000014.8:g.65026844_65026851dup, NC_000014.8:g.65026843_65026851dup, NC_000014.8:g.65026842_65026851dup, NC_000014.8:g.65026841_65026851dup, NC_000014.8:g.65026840_65026851dup, NC_000014.8:g.65026839_65026851dup, NC_000014.8:g.65026838_65026851dup, NC_000014.8:g.65026837_65026851dup, NC_000014.8:g.65026836_65026851dup, NC_000014.8:g.65026831_65026851dup, NC_000014.8:g.65026851_65026852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.65026851_65026852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
5.
rs1491212601 has merged into rs1555350770 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA
[Show Flanks]
- Chromosome:
- 14:64550234
(GRCh38)
14:65016952
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64550223:AAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:64550223:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:64550223:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:64550223:AAAAAAAAAAAA:AAAAAAAAAAAAAA
- Gene:
- PPP1R36 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.00952/160
(TOMMO)
A=0.10167/61
(NorthernSweden)
- HGVS:
NC_000014.9:g.64550234_64550235del, NC_000014.9:g.64550235del, NC_000014.9:g.64550235dup, NC_000014.9:g.64550234_64550235dup, NC_000014.8:g.65016952_65016953del, NC_000014.8:g.65016953del, NC_000014.8:g.65016953dup, NC_000014.8:g.65016952_65016953dup, XM_005267354.5:c.-20_-19del, XM_005267354.5:c.-19del, XM_005267354.5:c.-19dup, XM_005267354.5:c.-20_-19dup, XM_005267354.4:c.-20_-19del, XM_005267354.4:c.-19del, XM_005267354.4:c.-19dup, XM_005267354.4:c.-20_-19dup, XM_005267354.3:c.-20_-19del, XM_005267354.3:c.-19del, XM_005267354.3:c.-19dup, XM_005267354.3:c.-20_-19dup, XM_005267354.2:c.-20_-19del, XM_005267354.2:c.-19del, XM_005267354.2:c.-19dup, XM_005267354.2:c.-20_-19dup, XM_005267354.1:c.-19_-18insAAAAAAA, XM_005267354.1:c.-23_-19dup, XM_005267354.1:c.-19_-18insAAAAAA, XM_005267354.1:c.-19_-18insAAAAAAAA, XM_005267354.1:c.-19_-18insAAAAAAAAA
6.
rs1491030805 has merged into rs369620598 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 14:64556776
(GRCh38)
14:65023494
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:64556762:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- PPP1R36 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.375/15
(GENOME_DK)
- HGVS:
NC_000014.9:g.64556764GT[6], NC_000014.9:g.64556764GT[8], NC_000014.9:g.64556764GT[9], NC_000014.9:g.64556764GT[10], NC_000014.9:g.64556764GT[11], NC_000014.9:g.64556764GT[12], NC_000014.9:g.64556764GT[13], NC_000014.9:g.64556764GT[14], NC_000014.9:g.64556764GT[15], NC_000014.9:g.64556764GT[17], NC_000014.9:g.64556764GT[18], NC_000014.9:g.64556764GT[19], NC_000014.9:g.64556764GT[20], NC_000014.9:g.64556764GT[21], NC_000014.9:g.64556764GT[22], NC_000014.9:g.64556764GT[23], NC_000014.9:g.64556764GT[24], NC_000014.9:g.64556764GT[25], NC_000014.9:g.64556764GT[26], NC_000014.9:g.64556764GT[27], NC_000014.9:g.64556764GT[28], NC_000014.9:g.64556764GT[30], NC_000014.9:g.64556764GT[31], NC_000014.8:g.65023482GT[6], NC_000014.8:g.65023482GT[8], NC_000014.8:g.65023482GT[9], NC_000014.8:g.65023482GT[10], NC_000014.8:g.65023482GT[11], NC_000014.8:g.65023482GT[12], NC_000014.8:g.65023482GT[13], NC_000014.8:g.65023482GT[14], NC_000014.8:g.65023482GT[15], NC_000014.8:g.65023482GT[17], NC_000014.8:g.65023482GT[18], NC_000014.8:g.65023482GT[19], NC_000014.8:g.65023482GT[20], NC_000014.8:g.65023482GT[21], NC_000014.8:g.65023482GT[22], NC_000014.8:g.65023482GT[23], NC_000014.8:g.65023482GT[24], NC_000014.8:g.65023482GT[25], NC_000014.8:g.65023482GT[26], NC_000014.8:g.65023482GT[27], NC_000014.8:g.65023482GT[28], NC_000014.8:g.65023482GT[30], NC_000014.8:g.65023482GT[31]
7.
rs1491018339 has merged into rs11441855 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:64553836
(GRCh38)
14:65020554
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64553823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:64553823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:64553823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:64553823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:64553823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:64553823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64553823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64553823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64553823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64553823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64553823:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PPP1R36 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
A=0.125/5
(GENOME_DK)
- HGVS:
NC_000014.9:g.64553836_64553841del, NC_000014.9:g.64553840_64553841del, NC_000014.9:g.64553841del, NC_000014.9:g.64553841dup, NC_000014.9:g.64553840_64553841dup, NC_000014.9:g.64553839_64553841dup, NC_000014.9:g.64553838_64553841dup, NC_000014.9:g.64553837_64553841dup, NC_000014.9:g.64553836_64553841dup, NC_000014.9:g.64553835_64553841dup, NC_000014.9:g.64553834_64553841dup, NC_000014.8:g.65020554_65020559del, NC_000014.8:g.65020558_65020559del, NC_000014.8:g.65020559del, NC_000014.8:g.65020559dup, NC_000014.8:g.65020558_65020559dup, NC_000014.8:g.65020557_65020559dup, NC_000014.8:g.65020556_65020559dup, NC_000014.8:g.65020555_65020559dup, NC_000014.8:g.65020554_65020559dup, NC_000014.8:g.65020553_65020559dup, NC_000014.8:g.65020552_65020559dup
8.
rs1490950862 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:64549716
(GRCh38)
14:65016434
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64549715:A:G
- Gene:
- PPP1R36 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490917011 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 14:64578856
(GRCh38)
14:65045574
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64578855:C:A,NC_000014.9:64578855:C:T
- Gene:
- PPP1R36 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
10.
rs1490784224 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 14:64553844
(GRCh38)
14:65020563
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64553844:C:CC
- Gene:
- PPP1R36 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490775067 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 14:64585729
(GRCh38)
14:65052447
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64585728:T:A
- Gene:
- PPP1R36 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000034/9
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS:
12.
rs1490748635 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:64569510
(GRCh38)
14:65036228
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64569509:G:C
- Gene:
- PPP1R36 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
13.
rs1490718169 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:64587063
(GRCh38)
14:65053781
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64587062:T:C
- Gene:
- PPP1R36 (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:
14.
rs1490589725 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 14:64552846
(GRCh38)
14:65019565
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64552846:G:GG
- Gene:
- PPP1R36 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,5_prime_UTR_variant,frameshift_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
NC_000014.9:g.64552847dup, NC_000014.8:g.65019565dup, XM_005267354.5:c.132dup, XM_005267354.4:c.132dup, XM_005267354.3:c.132dup, XM_005267354.2:c.132dup, XM_005267354.1:c.132dup, XM_005267355.5:c.36dup, XM_005267355.4:c.36dup, XM_005267355.3:c.36dup, XM_005267355.2:c.36dup, XM_005267355.1:c.36dup, XM_011536468.4:c.168dup, XM_011536468.3:c.168dup, XM_011536468.2:c.168dup, XM_011536468.1:c.168dup, NM_172365.3:c.168dup, NM_172365.2:c.168dup, NM_172365.1:c.168dup, XM_047430998.1:c.-232dup, XM_047430999.1:c.-232dup, XP_005267411.1:p.Lys45fs, XP_005267412.1:p.Lys13fs, XP_011534770.1:p.Lys57fs, NP_758953.1:p.Lys57fs
15.
rs1490478731 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT
[Show Flanks]
- Chromosome:
- 14:64560317
(GRCh38)
14:65027036
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64560317:TGT:TGTGT
- Gene:
- PPP1R36 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGT=0./0
(
ALFA)
TG=0.000004/1
(TOPMED)
TG=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490460669 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:64548684
(GRCh38)
14:65015402
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64548683:A:G
- Gene:
- PPP1R36 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000023/6
(TOPMED)
G=0.000036/5
(GnomAD)
- HGVS:
17.
rs1490368431 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:64577384
(GRCh38)
14:65044102
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64577383:G:A
- Gene:
- PPP1R36 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490260639 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:64553841
(GRCh38)
14:65020559
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64553840:A:C
- Gene:
- PPP1R36 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000071/1
(TOMMO)
- HGVS:
20.
rs1490255834 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:64568081
(GRCh38)
14:65034799
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64568080:T:C
- Gene:
- PPP1R36 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000447/2
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000446/2
(Estonian)
- HGVS: