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: rs370717845
rs370717845
HGSNAT
33 0.763 0.320 8 43161462 missense variant G/A snv 0.700 0
dbSNP: rs10958350
rs10958350
OPRK1
2 8 53237506 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs12675595
rs12675595 		3 8 53255365 upstream gene variant G/A snv 6.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs7016778
rs7016778
OPRK1
3 8 53237545 intron variant A/T snv 0.17 0.010 1.000 1 2014 2014