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: rs121913459
rs121913459
25 0.672 0.160 9 130872896 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs121913460
rs121913460
2 0.925 0.080 9 130862971 missense variant A/T snv 0.010 1.000 1 2009 2009
dbSNP: rs1360131632
rs1360131632
6 0.827 0.080 17 42301316 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016