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: rs104894584
rs104894584
5 0.851 0.120 17 70175553 missense variant G/A snv 0.030 1.000 3 2005 2017
dbSNP: rs147750704
rs147750704
2 0.925 0.080 17 70175316 missense variant G/A snv 1.6E-04 7.0E-05 0.010 1.000 1 2009 2009
dbSNP: rs199473387
rs199473387
1 1.000 0.120 17 70175952 missense variant A/C;G snv 0.010 1.000 1 2007 2007