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: rs4149584
rs4149584
24 0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02 0.050 1.000 5 2007 2019
dbSNP: rs104895218
rs104895218
5 0.827 0.240 12 6334099 missense variant C/T snv 0.020 1.000 2 2003 2007
dbSNP: rs104895219
rs104895219
5 0.827 0.240 12 6333823 missense variant G/A;T snv 0.010 1.000 1 2004 2004
dbSNP: rs104895228
rs104895228
2 0.925 0.120 12 6333764 missense variant A/C;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs104895252
rs104895252
2 0.925 0.120 12 6333844 splice donor variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs104895271
rs104895271
6 0.851 0.240 12 6334161 missense variant A/C;G snv 1.6E-04; 4.8E-05 0.010 1.000 1 2013 2013
dbSNP: rs34751757
rs34751757
3 0.882 0.160 12 6333790 missense variant G/A;T snv 1.0E-04 0.010 1.000 1 2014 2014
dbSNP: rs371977426
rs371977426
3 0.882 0.080 17 81859255 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008