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: rs76863441
rs76863441
25 0.672 0.440 6 46709361 missense variant C/A snv 4.5E-03 1.3E-03 0.800 1.000 5 1996 1998
dbSNP: rs201256712
rs201256712
1 1.000 0.080 6 46709354 missense variant T/C snv 2.8E-05 3.5E-05 0.700 1.000 5 1996 1998
dbSNP: rs201899866
rs201899866
1 1.000 0.080 6 46711495 splice donor variant C/T snv 9.6E-04 1.9E-04 0.700 0