Source: CURATED ×
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: rs398122522
rs398122522
1 0.925 0.160 5 35070174 missense variant T/C snv 0.800 1.000 1 2013 2013
dbSNP: rs376188691
rs376188691
1 1.000 0.080 5 35072607 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs754974807
rs754974807
1 1.000 0.080 5 35068265 missense variant G/A snv 2.4E-05 7.0E-05 0.700 0