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: rs35695070
rs35695070
1 17 7440221 5 prime UTR variant CC/-;C;CCC;CCCC delins 0.700 1.000 1 2019 2019