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: rs149595793
rs149595793
3 1.000 X 70492544 missense variant G/A snv 3.3E-05 6.6E-05 0.700 0
dbSNP: rs398122846
rs398122846
1 1.000 X 70451967 frameshift variant -/C delins 0.700 0
dbSNP: rs398122847
rs398122847
1 1.000 X 70454284 stop gained C/G snv 0.700 0
dbSNP: rs587777359
rs587777359
1 1.000 X 70445559 splice donor variant G/C snv 0.700 0
dbSNP: rs587777360
rs587777360
1 1.000 X 70450784 splice donor variant G/C snv 0.700 0