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: rs1565569158
rs1565569158
4 12 6939148 missense variant A/G snv 0.700 0
dbSNP: rs767978562
rs767978562
8 0.790 0.320 13 38851093 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0