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: rs863224946
rs863224946
2 0.925 0.040 5 150125501 missense variant G/C snv 0.830 1.000 3 2017 2019
dbSNP: rs1060499542
rs1060499542
5 0.827 0.120 5 150125556 missense variant A/G snv 0.010 1.000 1 2019 2019