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: rs34557412
rs34557412
15 0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03 0.100 0.900 10 2005 2018
dbSNP: rs72553883
rs72553883
5 0.851 0.080 17 16940415 missense variant G/A;T snv 2.8E-05; 5.3E-03 0.050 0.800 5 2005 2015
dbSNP: rs35062843
rs35062843
1 1.000 0.040 17 16948892 synonymous variant A/C snv 4.2E-02 3.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs751216929
rs751216929
1 1.000 0.040 17 16940442 missense variant C/T snv 1.8E-04 2.0E-04 0.010 1.000 1 2009 2009