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: rs137853130
rs137853130
2 0.925 0.200 17 72122759 missense variant G/A snv 0.700 0
dbSNP: rs587776541
rs587776541
2 0.925 0.200 17 72123592 frameshift variant -/C delins 0.700 0
dbSNP: rs80338688
rs80338688
2 0.925 0.200 17 72124177 stop gained C/A;G;T snv 3.3E-04 0.700 0
dbSNP: rs866706988
rs866706988
2 0.925 0.200 17 72122795 missense variant C/A;T snv 0.700 0