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: rs63750427
rs63750427
6 0.882 0.200 16 16163158 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.700 0
dbSNP: rs72664233
rs72664233
10 0.882 0.200 16 16157770 frameshift variant A/- del 8.4E-05 4.9E-05 0.700 0