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: rs267606920
rs267606920
4 0.882 0.160 1 114713911 missense variant C/T snv 7.0E-06 0.800 1.000 2 2010 2010
dbSNP: rs267606921
rs267606921
3 0.882 0.160 1 114713941 missense variant G/A snv 0.800 1.000 2 2010 2010
dbSNP: rs121434596
rs121434596
26 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 0