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: rs1554843251
rs1554843251
NDUFB8
1 1.000 10 100526435 missense variant G/C snv 0.800 1.000 1 2018 2018
dbSNP: rs1554843434
rs1554843434
NDUFB8 ; HIF1AN
1 1.000 10 100529408 missense variant A/G snv 0.800 1.000 1 2018 2018
dbSNP: rs1239013578
rs1239013578
NDUFB8
1 1.000 10 100527060 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.800 0
dbSNP: rs1264186261
rs1264186261
NDUFB8 ; HIF1AN
1 1.000 10 100529403 frameshift variant T/- delins 1.2E-05 2.1E-05 0.700 0