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: rs121917858
rs121917858
2 0.925 0.080 12 91055542 missense variant T/C snv 6.8E-04 4.4E-04 0.020 1.000 2 2007 2018
dbSNP: rs121917863
rs121917863
2 0.925 0.080 12 91051468 stop gained G/A;C;T snv 2.0E-05; 4.0E-06; 4.0E-06 0.010 1.000 1 2006 2006