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: rs587776540
rs587776540
1 1.000 0.036 8 118110512 frameshift variant TGCACTTTG/T in-del 0.700 1 1997 1997
dbSNP: rs78311289
rs78311289
27 0.662 0.357 4 1806162 missense variant A/C,G snp 4.0E-06 0.010 1.000 1 2014 2014