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: rs121908051
rs121908051
1 1.000 0.080 16 67944001 missense variant G/A snv 0.800 1.000 7 1992 2011
dbSNP: rs748427834
rs748427834
1 1.000 0.080 16 67943158 missense variant A/T snv 4.0E-06 0.700 0
dbSNP: rs560140762
rs560140762
1 1.000 0.080 16 67944067 missense variant G/A snv 1.6E-04 7.0E-05 0.010 1.000 1 2004 2004