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: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.810 1.000 5 2008 2017
dbSNP: rs12129787
rs12129787
1 1.000 0.080 1 161522797 splice region variant C/T snv 0.32 0.700 1.000 1 2017 2017
dbSNP: rs6671847
rs6671847
2 0.925 0.120 1 161509020 intron variant G/A snv 0.43 0.700 1.000 1 2015 2015