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: rs140614802
rs140614802
10 0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05 0.800 0
dbSNP: rs559454746
rs559454746
1 1.000 14 104741973 frameshift variant A/- del 2.8E-05 0.700 0