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: rs138665095
rs138665095
CRAT
2 1.000 9 129100533 missense variant C/T snv 6.4E-05 1.4E-05 0.700 0
dbSNP: rs200455852
rs200455852
ASAH1
6 0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05 0.700 0
dbSNP: rs201191394
rs201191394
REPS1
2 1.000 6 138945637 missense variant G/T snv 1.2E-04 2.0E-04 0.700 0
dbSNP: rs374259530
rs374259530
ADSL
5 0.925 0.200 22 40350018 missense variant T/C snv 3.6E-05 9.1E-05 0.700 0
dbSNP: rs756210458
rs756210458
ADSL
5 0.925 0.200 22 40354266 missense variant C/G;T snv 4.0E-06; 1.2E-05 0.700 0