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: rs104894481
rs104894481
1 1.000 0.080 15 44711577 missense variant G/C;T snv 4.0E-06 0.800 1.000 1 2006 2006
dbSNP: rs863225287
rs863225287
1 1.000 0.080 15 44711614 splice donor variant G/T snv 0.700 0