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: rs34165410
rs34165410
2 0.925 0.080 4 4860247 synonymous variant C/G;T snv 4.8E-06; 6.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs515726227
rs515726227
2 0.925 0.080 4 4863139 frameshift variant -/TA delins 0.010 1.000 1 2014 2014