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: rs782190413
rs782190413
SURF1
2 0.925 0.120 9 133352708 missense variant G/A snv 1.2E-05 3.5E-05 0.800 1.000 1 2013 2013
dbSNP: rs782316919
rs782316919
SURF1
9 0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 0.700 0
dbSNP: rs782726390
rs782726390
SURF1 ; SURF2
1 1.000 9 133354959 splice acceptor variant T/C snv 8.0E-06 0.700 0
dbSNP: rs863224228
rs863224228
SURF1 ; SURF2
3 0.882 0.120 9 133354661 frameshift variant GGCTGGCAGA/AT delins 0.700 0
dbSNP: rs864309500
rs864309500
SURF1
1 1.000 9 133352094 frameshift variant AG/- delins 0.700 0