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: rs62636275
rs62636275
CRB1
4 0.851 0.080 1 197435170 missense variant G/A snv 2.8E-05 3.5E-05 0.010 1.000 1 2006 2006
dbSNP: rs61750420
rs61750420
PEX1
52 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
dbSNP: rs429358
rs429358
APOE
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.700 1.000 1 2018 2018
dbSNP: rs12536657
rs12536657
HGF
2 0.925 0.040 7 81720892 intron variant A/G snv 0.84 0.85 0.020 1.000 2 2010 2019