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: rs104894073
rs104894073
8 0.827 0.080 8 11750213 missense variant G/A;C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs387906772
rs387906772
3 1.000 0.080 8 11755064 missense variant A/G;T snv 0.010 1.000 1 2015 2015