Have questions? Visit https://www.reddit.com/r/SNPedia

rs121913286

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913286(A;A)
Make rs121913286(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position179218306
GenePIK3CA
is asnp
is mentioned by
dbSNPrs121913286
dbSNP (classic)rs121913286
ClinGenrs121913286
ebirs121913286
HLIrs121913286
Exacrs121913286
Gnomadrs121913286
Varsomers121913286
LitVarrs121913286
Maprs121913286
PheGenIrs121913286
Biobankrs121913286
1000 genomesrs121913286
hgdprs121913286
ensemblrs121913286
geneviewrs121913286
scholarrs121913286
googlers121913286
pharmgkbrs121913286
gwascentralrs121913286
openSNPrs121913286
23andMers121913286
SNPshotrs121913286
SNPdbers121913286
MSV3drs121913286
GWAS Ctlgrs121913286
Max Magnitude0
OMIM171834
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121913286(A;A) rs121913286(G;G)
Alt rs121913286(A;A) rs121913286(G;G)
Reference Rs121913286(C;C)
Significance Pathogenic
Disease Ovarian epithelial cancer Carcinoma of colon PIK3CA related overgrowth spectrum Malignant tumor of prostate Glioblastoma Medulloblastoma Colorectal Neoplasms Adenocarcinoma of prostate Transitional cell carcinoma of the bladder Lung cancer Malignant melanoma of skin Neoplasm of brain Malignant neoplasm of body of uterus Ovarian Neoplasms Uterine Carcinosarcoma Neoplasm of breast Squamous cell carcinoma of the head and neck Adenocarcinoma of stomach Uterine cervical neoplasms Breast adenocarcinoma
Variation info
Gene PIK3CA
CLNDBN Ovarian epithelial cancer Carcinoma of colon PIK3CA related overgrowth spectrum Malignant tumor of prostate Glioblastoma Medulloblastoma Colorectal Neoplasms Adenocarcinoma of prostate Transitional cell carcinoma of the bladder Lung cancer Malignant melanoma of skin Neoplasm of brain Malignant neoplasm of body of uterus Ovarian Neoplasms Uterine Carcinosarcoma Neoplasm of breast Squamous cell carcinoma of the head and neck Adenocarcinoma of stomach Uterine cervical neoplasms Breast adenocarcinoma
Reversed 0
HGVS NC_000003.11:g.178936094C>A; NC_000003.11:g.178936094C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014639.5, RCV000014640.5, RCV000201230.1, RCV000205164.1, RCV000419967.1, RCV000421680.1, RCV000424106.1, RCV000425454.1, RCV000426539.1, RCV000430236.1, RCV000430641.1, RCV000431780.1, RCV000431921.1, RCV000436582.1, RCV000436763.1, RCV000441825.1, RCV000442123.1, RCV000442141.1, RCV000443162.1, RCV000014630.5, RCV000420029.1, RCV000421157.1, RCV000421383.1, RCV000422486.1, RCV000427915.1, RCV000431151.1, RCV000432516.1, RCV000432772.1, RCV000437696.1, RCV000439013.1, RCV000441411.1, RCV000441934.1, RCV000442905.1,