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: rs397514513
rs397514513
4 0.882 0.080 4 107945426 missense variant A/T snv 0.700 0
dbSNP: rs759033144
rs759033144
1 1.000 0.080 4 107947399 frameshift variant AG/- delins 1.2E-05 2.1E-05 0.700 0
dbSNP: rs772400670
rs772400670
3 0.925 0.080 4 107947417 stop gained C/A;G;T snv 8.0E-06; 1.2E-05; 1.2E-05 0.010 1.000 1 2016 2016