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: rs1553732126
rs1553732126
2 3 123347875 frameshift variant -/G delins 0.700 1.000 22 1992 2017
dbSNP: rs746547282
rs746547282
1 3 123330888 splice donor variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 22 1992 2017