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: rs371245265
rs371245265
1 1.000 0.080 7 91940884 5 prime UTR variant CGGCGGCGG/-;CGG;CGGCGG;CGGCGGCGGCGG;CGGCGGCGGCGGCGG;CGGCGGCGGCGGCGGCGG;CGGCGGCGGCGGCGGCGGCGG delins 0.010 1.000 1 2018 2018