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: rs118203967
rs118203967
PSAT1
1 1.000 0.200 9 78304842 missense variant A/C snv 1.4E-05 0.800 0
dbSNP: rs587777747
rs587777747
PSAT1
1 1.000 0.200 9 78300647 frameshift variant G/- delins 0.700 0