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: rs781969081
rs781969081
1 1.000 2 70964443 frameshift variant C/-;CC delins 4.0E-06 0.700 1.000 9 1995 2017