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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2014 2014
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs2268276
rs2268276
2 0.925 0.040 21 34808717 intron variant G/A snv 0.38 0.010 1.000 1 2016 2016
dbSNP: rs35602083
rs35602083
4 0.851 0.040 13 28049450 missense variant C/T snv 1.7E-02 1.6E-02 0.010 1.000 1 2006 2006
dbSNP: rs768942227
rs768942227
1 1.000 0.040 19 17832629 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 < 0.001 1 2010 2010