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: rs191284403
rs191284403
1 1.000 0.120 13 83878728 3 prime UTR variant C/A;T snv 0.700 0
dbSNP: rs193302861
rs193302861
2 0.925 0.120 13 83880244 frameshift variant G/- delins 0.700 0
dbSNP: rs779610480
rs779610480
1 1.000 0.120 13 83880800 synonymous variant G/A;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2006 2006