Gene: SURF1 ×
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: rs121918657
rs121918657
SURF1
2 0.925 0.120 9 133352446 stop gained G/A snv 1.2E-05 0.700 0
dbSNP: rs121918658
rs121918658
SURF1
2 0.925 0.120 9 133352074 missense variant A/C snv 0.700 0
dbSNP: rs28933402
rs28933402
SURF1
2 0.925 0.120 9 133353893 missense variant C/T snv 0.700 0
dbSNP: rs398122806
rs398122806
SURF1
2 0.925 0.120 9 133352518 missense variant A/G snv 0.700 0
dbSNP: rs782316919
rs782316919
SURF1
9 0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 0.700 0
dbSNP: rs782490558
rs782490558
SURF1
3 0.882 0.120 9 133352101 frameshift variant CT/- delins 1.6E-05 3.5E-05 0.700 0
dbSNP: rs863224228
rs863224228
SURF1 ; SURF2
3 0.882 0.120 9 133354661 frameshift variant GGCTGGCAGA/AT delins 0.700 0