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: rs730882180
rs730882180
2 0.925 0.200 4 78472331 splice donor variant G/T snv 4.2E-06 0.700 0
dbSNP: rs755750961
rs755750961
1 1.000 0.200 4 78364051 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs758310028
rs758310028
1 1.000 0.200 4 78445773 missense variant G/A snv 4.4E-06 0.010 1.000 1 2018 2018