Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587778809
MFSD8
0.925 0.120 4 127938781 splice donor variant A/T snv 8.0E-06 2.8E-05 2
rs140948465
MFSD8
0.925 0.120 4 127930800 missense variant G/A;T snv 4.0E-06; 8.0E-06 2
rs267607235
MFSD8
1.000 0.120 4 127921639 missense variant G/A snv 2.0E-05 7.0E-06 2
rs724159970
MFSD8
0.925 0.120 4 127921733 stop gained C/A snv 4.0E-06 7.0E-06 2
rs724159971
MFSD8
0.925 0.120 4 127920743 stop gained G/A snv 2.0E-05 2.8E-05 2
rs727502800
MFSD8
0.925 0.120 4 127921860 missense variant C/G snv 2
rs200319160
MFSD8
1.000 0.120 4 127932984 splice donor variant C/G;T snv 8.0E-06; 4.0E-06 1
rs868732642
MFSD8
4 127938782 splice donor variant C/A;T snv 4.0E-06 1
rs1560747815
MFSD8
4 127939999 splice acceptor variant T/A snv 1
rs118203976
MFSD8
1.000 0.120 4 127921588 missense variant C/T snv 4.0E-06 1
rs118203977
MFSD8
1.000 0.120 4 127930787 stop gained A/C;G snv 4.0E-06; 1.2E-05 1
rs727502801
MFSD8
1.000 0.120 4 127932981 frameshift variant -/A ins 1.6E-05 1
rs118203978
MFSD8
1.000 0.120 4 127943829 missense variant T/C;G snv 4.0E-06 1
rs118203975
MFSD8
1.000 0.120 4 127930752 missense variant C/T snv 1
rs1560776422
MFSD8
1.000 0.120 4 127957591 splice acceptor variant C/A snv 1
rs749704755
MFSD8
1.000 0.120 4 127943775 missense variant C/A;T snv 8.0E-06; 4.0E-06 1
rs1439582451
MFSD8
1.000 0.120 4 127921926 frameshift variant C/- del 4.0E-06 1
rs1460276679
MFSD8
1.000 0.120 4 127921876 frameshift variant G/- delins 1.2E-05 1
rs751696703
MFSD8
1.000 0.120 4 127942160 splice acceptor variant T/A snv 1
rs556661896
MFSD8
1.000 0.120 4 127942073 stop gained A/G;T snv 1
rs150418024
MFSD8
1.000 4 127921956 missense variant C/G;T snv 2.4E-03; 4.0E-06 1