HEPH, hephaestin, 9843

N. diseases: 27; N. variants: 10
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs17216603
rs17216603
X 66198947 missense variant G/A snv 2.4E-02 2.1E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2015 2015