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: rs138249161
rs138249161
8 0.827 0.240 12 106432421 missense variant T/A snv 2.7E-04 3.0E-04 0.700 0
dbSNP: rs774526181
rs774526181
3 0.882 0.200 12 106427360 splice donor variant T/C snv 8.0E-06 2.1E-05 0.700 0