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: rs536400690
rs536400690
FOXRED1
1 1.000 0.040 11 126275327 missense variant G/C snv 2.6E-04 7.0E-05 0.700 0
dbSNP: rs587776949
rs587776949
NDUFS4
2 0.925 0.120 5 53683152 frameshift variant A/-;AA delins 2.8E-05 0.700 0
dbSNP: rs747359752
rs747359752
NDUFS4
1 1.000 0.040 5 53658555 missense variant G/C snv 8.0E-06 0.700 0
dbSNP: rs750971390
rs750971390
NDUFS1
1 1.000 0.040 2 206152508 stop gained G/A snv 3.2E-05 7.0E-06 0.700 0
dbSNP: rs771783839
rs771783839
NDUFS3
1 1.000 0.040 11 47582437 missense variant G/A;T snv 4.4E-05; 4.0E-06 0.700 0
dbSNP: rs786205225
rs786205225
NDUFB11
4 0.851 0.200 X 47142690 stop gained G/A snv 0.700 0