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: rs752670374
rs752670374
NDUFV2
1 1.000 18 9117904 splice region variant GTAA/- delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs772188600
rs772188600
NDUFV2 ; NDUFV2-AS1
1 1.000 18 9134198 frameshift variant -/G ins 3.2E-05 1.4E-05 0.700 0