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: rs387907136
rs387907136
3 0.882 0.080 8 95247712 missense variant G/A snv 2.0E-05 7.0E-06 0.800 1.000 1 2012 2012
dbSNP: rs387907137
rs387907137
3 0.882 0.080 8 95247696 missense variant T/C snv 0.700 1.000 1 2012 2012
dbSNP: rs1064792853
rs1064792853
1 1.000 8 95263776 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1085307121
rs1085307121
1 1.000 8 95269033 splice donor variant A/G snv 0.700 0