Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060502375
rs1060502375
FLCN
3 0.882 0.120 17 17228023 missense variant G/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs707889
rs707889
HFE
6 0.827 0.200 6 26095703 3 prime UTR variant G/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs776399733
rs776399733
VHL
3 0.882 0.120 3 10141965 missense variant C/A;T snv 6.5E-06 0.010 1.000 1 2015 2015