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: rs200395672
rs200395672
POC1B
2 0.925 0.120 12 89470461 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs72552725
rs72552725
SLC22A5 ; MIR3936HG
3 0.882 0.280 5 132370067 missense variant A/G snv 2.4E-05 2.1E-05 0.010 1.000 1 2019 2019