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: rs2284367
rs2284367
CAT
1 11 34462995 intron variant T/C snv 0.22 0.700 1.000 1 2017 2017
dbSNP: rs646776
rs646776
CELSR2
25 0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74 0.700 1.000 1 2017 2017