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: rs104893848
rs104893848
2 0.925 0.080 4 154744851 missense variant T/A;C snv 5.6E-05 0.700 0
dbSNP: rs761717462
rs761717462
1 1.000 0.080 4 154744723 frameshift variant AA/-;AAA delins 4.0E-06 0.700 0