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: rs753288303
rs753288303
MMUT
2 1.000 0.080 6 49451518 missense variant C/T snv 2.8E-05 1.4E-05 0.700 1.000 2 2014 2015