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: rs1258130495
rs1258130495
3 0.882 0.040 4 147485727 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs899115126
rs899115126
3 0.882 0.080 4 147542603 missense variant G/C snv 0.010 1.000 1 2006 2006