rs1057868, POR

N. diseases: 9
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
21-hydroxylase deficiency
CUI: C0852654
Disease: 21-hydroxylase deficiency
28 0.763 0.320 7 75985688 missense variant C/T snv 0.31 0.27 0.010 1 2008 2008
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
281 0.763 0.320 7 75985688 missense variant C/T snv 0.31 0.27 0.010 1.000 1 2015 2015
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.763 0.320 7 75985688 missense variant C/T snv 0.31 0.27 0.010 1.000 1 2007 2007
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
309 0.763 0.320 7 75985688 missense variant C/T snv 0.31 0.27 0.010 1.000 1 2015 2015
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
62 0.763 0.320 7 75985688 missense variant C/T snv 0.31 0.27 0.010 1 2008 2008
Deficiency of steroid 21-monooxygenase
CUI: C0268287
Disease: Deficiency of steroid 21-monooxygenase
26 0.763 0.320 7 75985688 missense variant C/T snv 0.31 0.27 0.010 1 2008 2008
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.763 0.320 7 75985688 missense variant C/T snv 0.31 0.27 0.010 1 2019 2019
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.763 0.320 7 75985688 missense variant C/T snv 0.31 0.27 0.010 1.000 1 2007 2007
Malignant neoplasm of urinary bladder
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
316 0.763 0.320 7 75985688 missense variant C/T snv 0.31 0.27 0.010 1.000 1 2015 2015