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: rs150418024
rs150418024
MFSD8
2 1.000 4 127921956 missense variant C/G;T snv 2.4E-03; 4.0E-06 0.800 1.000 1 2015 2015
dbSNP: rs724159970
rs724159970
MFSD8
2 0.925 0.120 4 127921733 stop gained C/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs724159971
rs724159971
MFSD8
2 0.925 0.120 4 127920743 stop gained G/A snv 2.0E-05 2.8E-05 0.700 0
dbSNP: rs727502800
rs727502800
MFSD8
2 0.925 0.120 4 127921860 missense variant C/G snv 0.700 0