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: rs1554385305
rs1554385305
7 0.925 0.040 7 44241784 splice acceptor variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554386687
rs1554386687
12 0.882 0.040 7 44242328 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554389088
rs1554389088
27 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1554402092
rs1554402092
8 1.000 7 44254555 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554434435
rs1554434435
4 1.000 7 44284206 stop gained G/A snv 0.700 1.000 1 2017 2017