ClinVar
|
Risk
|
rs104886003(A;A) rs104886003(C;C) |
Alt
|
rs104886003(A;A) rs104886003(C;C) |
Reference
|
Rs104886003(G;G) |
Significance |
Pathogenic |
Disease |
Breast adenocarcinoma Ovarian epithelial cancer Carcinoma of colon Neoplasm of stomach Keratosis Non-small cell lung cancer Megalencephaly cutis marmorata telangiectatica congenita Sarcoma Adenocarcinoma of prostate Squamous cell carcinoma of lung Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Renal cell carcinoma Ovarian Neoplasms Oesophageal carcinoma Malignant neoplasm of body of uterus Ovarian Serous Cystadenocarcinoma Transitional cell carcinoma of the bladder Nasopharyngeal Neoplasms Uterine cervical neoplasms Neoplasm of breast Malignant melanoma of skin Papillary renal cell carcinoma Small cell lung cancer Hepatocellular carcinoma Carcinoma of gallbladder Glioblastoma Colorectal Neoplasms Adenocarcinoma of lung Adenocarcinoma of stomach Uterine Carcinosarcoma Brainstem glioma Neoplasm of brain Head and Neck Neoplasms |
Variation | info |
---|
Gene |
PIK3CA |
CLNDBN |
Breast adenocarcinoma Ovarian epithelial cancer Carcinoma of colon Neoplasm of stomach Keratosis, seborrheic Non-small cell lung cancer Megalencephaly cutis marmorata telangiectatica congenita Sarcoma Adenocarcinoma of prostate Squamous cell carcinoma of lung Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Renal cell carcinoma Ovarian Neoplasms Oesophageal carcinoma Malignant neoplasm of body of uterus Ovarian Serous Cystadenocarcinoma Transitional cell carcinoma of the bladder Nasopharyngeal Neoplasms Uterine cervical neoplasms Neoplasm of breast Malignant melanoma of skin Papillary renal cell carcinoma, sporadic Small cell lung cancer Hepatocellular carcinoma Carcinoma of gallbladder Glioblastoma Colorectal Neoplasms Adenocarcinoma of lung Adenocarcinoma of stomach Uterine Carcinosarcoma Brainstem glioma Neoplasm of brain Head and Neck Neoplasms |
Reversed |
0 |
HGVS |
NC_000003.11:g.178936091G>A; NC_000003.11:g.178936091G>C |
CLNSRC |
OMIM Allelic Variant UniProtKB (protein) |
CLNACC |
RCV000014631.5, RCV000014632.5, RCV000014633.5, RCV000014634.5, RCV000014636.5, RCV000038671.9, RCV000055930.6, RCV000119356.1, RCV000417835.1, RCV000418058.1, RCV000420851.1, RCV000421583.1, RCV000421958.1, RCV000422210.1, RCV000423327.1, RCV000425490.1, RCV000426520.1, RCV000427202.1, RCV000428639.1, RCV000429391.1, RCV000431416.1, RCV000432636.1, RCV000433152.1, RCV000433976.1, RCV000437876.1, RCV000438060.1, RCV000438445.1, RCV000438587.1, RCV000440053.1, RCV000440694.1, RCV000441866.1, RCV000441949.1, RCV000442569.1, RCV000418587.1, RCV000418767.1, RCV000421622.1, RCV000422954.1, RCV000423574.1, RCV000423978.1, RCV000424431.1, RCV000425714.1, RCV000427263.1, RCV000429497.1, RCV000430168.1, RCV000431018.1, RCV000431401.1, RCV000434277.1, RCV000434629.1, RCV000435117.1, RCV000435310.1, RCV000435795.1, RCV000436433.1, RCV000440189.1, RCV000441730.1, RCV000442112.1, RCV000442200.1, RCV000442485.1, RCV000443141.1, RCV000445019.1, |