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: rs1044250
rs1044250
12 0.807 0.240 19 8371280 missense variant C/T snv 0.30 0.29 0.010 1.000 1 2008 2008
dbSNP: rs11672433
rs11672433
3 0.925 0.120 19 8373832 synonymous variant G/A;C snv 0.10; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs4076317
rs4076317
5 0.882 0.080 19 8364115 intron variant C/G snv 0.25 0.010 1.000 1 2008 2008