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: rs587776949
rs587776949
NDUFS4
2 0.925 0.120 5 53683152 frameshift variant A/-;AA delins 2.8E-05 0.700 1.000 4 2008 2014
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 1.000 3 2003 2010
dbSNP: rs1554059248
rs1554059248
NDUFS4
1 1.000 0.120 5 53646231 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1554062427
rs1554062427
NDUFS4
1 1.000 0.120 5 53683163 frameshift variant CC/- del 0.700 0