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: rs1748033
rs1748033
2 0.925 0.120 1 17336167 missense variant T/C;G snv 0.63; 4.0E-06 0.030 1.000 3 2014 2018