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: rs137955120
rs137955120
1 1.000 19 49807197 missense variant C/T snv 1.5E-04 9.1E-05 0.700 0
dbSNP: rs139365610
rs139365610
1 1.000 19 49807348 missense variant C/A;T snv 2.4E-05; 8.1E-04 0.700 0
dbSNP: rs387907204
rs387907204
FUZ
1 1.000 19 49812733 missense variant G/A snv 0.700 0