rs1057519757
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1057519757(A;A) |
Make rs1057519757(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 5 |
Position | 68293310 |
Gene | PIK3R1 |
is a | snp |
is | mentioned by |
dbSNP | rs1057519757 |
dbSNP (classic) | rs1057519757 |
ClinGen | rs1057519757 |
ebi | rs1057519757 |
HLI | rs1057519757 |
Exac | rs1057519757 |
Gnomad | rs1057519757 |
Varsome | rs1057519757 |
LitVar | rs1057519757 |
Map | rs1057519757 |
PheGenI | rs1057519757 |
Biobank | rs1057519757 |
1000 genomes | rs1057519757 |
hgdp | rs1057519757 |
ensembl | rs1057519757 |
geneview | rs1057519757 |
scholar | rs1057519757 |
rs1057519757 | |
pharmgkb | rs1057519757 |
gwascentral | rs1057519757 |
openSNP | rs1057519757 |
23andMe | rs1057519757 |
SNPshot | rs1057519757 |
SNPdbe | rs1057519757 |
MSV3d | rs1057519757 |
GWAS Ctlg | rs1057519757 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1057519757(A;A) rs1057519757(C;C) |
Alt | rs1057519757(A;A) rs1057519757(C;C) |
Reference | Rs1057519757(G;G) |
Significance | Probable-Pathogenic |
Disease | Neoplasm Malignant melanoma of skin Neoplasm of brain Glioblastoma Uterine Carcinosarcoma |
Variation | info |
Gene | PIK3R1 |
CLNDBN | Neoplasm Malignant melanoma of skin Neoplasm of brain Glioblastoma Uterine Carcinosarcoma |
Reversed | 0 |
HGVS | NC_000005.9:g.67589138G>A; NC_000005.9:g.67589138G>C |
CLNSRC | |
CLNACC | RCV000425556.1, RCV000421788.1, RCV000422432.1, RCV000429204.1, RCV000435812.1, RCV000439435.1, |