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: rs587777777
rs587777777
PSAT1
1 1.000 9 78306452 stop gained C/A;T snv 0.800 1.000 1 2014 2014
dbSNP: rs587777778
rs587777778
PSAT1
1 1.000 9 78304839 missense variant C/T snv 1.6E-04 1.8E-04 0.800 1.000 1 2014 2014
dbSNP: rs1564012541
rs1564012541
PSAT1
1 1.000 9 78302010 frameshift variant G/- del 0.700 0
dbSNP: rs587777776
rs587777776
PSAT1
1 1.000 9 78328996 frameshift variant CCGGG/AGACCT delins 0.700 0