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: rs104895218
rs104895218
5 0.827 0.240 12 6334099 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs104895224
rs104895224
3 0.882 0.080 12 6333808 missense variant C/G;T snv 0.010 1.000 1 2001 2001