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: rs200383755
rs200383755
3 0.925 0.080 20 62475466 missense variant G/C snv 3.4E-03 3.0E-03 0.700 1.000 1 2018 2018
dbSNP: rs6061244
rs6061244
2 1.000 0.040 20 62466597 intron variant G/A;C snv 1.3E-03; 0.38 0.700 1.000 1 2018 2018