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: rs121918397
rs121918397
3 0.882 0.200 19 44908784 missense variant G/A;C snv 6.5E-06 0.830 1.000 5 1997 2007
dbSNP: rs121918399
rs121918399
2 0.925 0.120 19 44907843 missense variant C/T snv 8.0E-06 0.820 1.000 5 1997 2014
dbSNP: rs11542041
rs11542041
23 0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05 0.010 1.000 1 2007 2007