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: rs76371115
rs76371115
6 0.807 0.160 7 117531041 missense variant A/C;G;T snv 8.0E-06 0.010 1.000 1 2008 2008