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: rs1057519788
rs1057519788
6 0.925 0.080 6 117317184 missense variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs1484038087
rs1484038087
1 1.000 0.040 6 117317181 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016