Gene: NDUFS4 ×
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: rs104893898
rs104893898
NDUFS4
1 1.000 0.040 5 53646371 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs104893899
rs104893899
NDUFS4
1 1.000 0.040 5 53560706 stop gained G/A snv 0.700 0
dbSNP: rs121908985
rs121908985
NDUFS4
1 1.000 0.040 5 53646345 frameshift variant G/- delins 0.700 0
dbSNP: rs1445075330
rs1445075330
NDUFS4
1 1.000 0.040 5 53683157 frameshift variant -/AAGTC delins 4.0E-06 0.700 0
dbSNP: rs376281345
rs376281345
NDUFS4
2 0.925 0.120 5 53603451 splice acceptor variant G/A snv 8.0E-06 7.0E-06 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