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: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.100 0.667 15 1999 2018
dbSNP: rs1138272
rs1138272
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.060 0.833 6 2004 2018
dbSNP: rs4891
rs4891
3 0.882 0.080 11 67586499 synonymous variant T/C snv 0.35 0.38 0.010 1.000 1 2014 2014
dbSNP: rs770460061
rs770460061
14 0.742 0.240 11 67585239 missense variant T/C;G snv 4.0E-06; 1.2E-05 0.010 1.000 1 2011 2011