Source: ALL
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: rs121918253
rs121918253
MMUT
2 0.925 0.080 6 49459118 stop gained C/A snv 0.700 0
dbSNP: rs121918252
rs121918252
MMUT
3 0.925 0.080 6 49431831 missense variant C/A snv 4.8E-05 2.1E-04 0.700 0