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: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
13 0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 0.700 1.000 4 1993 2018
dbSNP: rs104893620
rs104893620
CNGA3
6 0.851 0.120 2 98395999 missense variant C/T snv 9.5E-05 7.0E-05 0.700 0
dbSNP: rs1555302200
rs1555302200
RPGRIP1
4 0.925 0.120 14 21326029 frameshift variant -/TT delins 0.700 0
dbSNP: rs2723341
rs2723341
NR2E3
8 0.807 0.160 15 71811481 splice acceptor variant A/C snv 5.3E-04 5.1E-04 0.700 0
dbSNP: rs397514698
rs397514698
GNAQ
52 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0