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: rs137853247
rs137853247
5 0.851 0.200 12 120978860 missense variant G/A;C snv 7.7E-04; 4.0E-06 0.700 0
dbSNP: rs587776771
rs587776771
2 0.925 0.240 17 37744839 frameshift variant G/- delins 0.700 0