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: rs121917834
rs121917834
9 0.801 0.107 8 22163096 missense variant T/A,C snp 3.6E-05 0.030 1.000 3 2005 2009
dbSNP: rs78655421
rs78655421
8 0.801 0.214 7 117530975 stop gained G/A,C,T snp 1.5E-03; 1.2E-05 1.1E-03; 3.2E-05 0.030 1.000 3 2000 2016
dbSNP: rs1078761
rs1078761
2 1.000 0.107 20 33288875 missense variant A/C,G snp 4.1E-06; 0.30 0.32 0.010 1.000 1 2016 2016
dbSNP: rs1143634
rs1143634
18 0.715 0.429 2 112832813 synonymous variant G/A snp 0.19 0.19 0.010 1.000 1 2009 2009
dbSNP: rs1143639
rs1143639
2 1.000 0.107 2 112831216 non coding transcript exon variant C/T snp 0.20 0.010 1.000 1 2009 2009
dbSNP: rs1695
rs1695
100 0.510 0.679 11 67585218 missense variant A/G snp 0.34 0.35 0.010 1.000 1 2004 2004
dbSNP: rs17235409
rs17235409
15 0.724 0.357 2 218395009 missense variant G/A,C snp 4.9E-02; 4.1E-06 4.0E-02; 3.2E-05 0.010 1.000 1 2005 2005
dbSNP: rs17563161
rs17563161
2 1.000 0.036 5 497509 intron variant G/A snp 0.18 0.010 1.000 1 2014 2014
dbSNP: rs1965708
rs1965708
3 1.000 0.036 10 79557289 missense variant G/T snp 0.22 0.26 0.010 1.000 1 2015 2015
dbSNP: rs35829419
rs35829419
10 0.801 0.250 1 247425556 missense variant C/A snp 3.9E-02 3.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs3788766
rs3788766
2 1.000 0.036 X 116435671 intergenic variant G/A snp 0.45 0.010 1.000 1 2014 2014
dbSNP: rs397508203
rs397508203
9 0.769 0.214 7 117559476 missense variant A/G snp 1.2E-05 0.010 1.000 1 2000 2000
dbSNP: rs4925
rs4925
10 0.769 0.214 10 104263031 missense variant C/A snp 0.25 0.23 0.010 < 0.001 1 2012 2012
dbSNP: rs74551128
rs74551128
6 0.846 0.143 7 117548795 missense variant C/A,T snp 5.3E-05; 5.7E-05 3.2E-05; 6.4E-05 0.010 1.000 1 1995 1995
dbSNP: rs74767530
rs74767530
3 0.923 0.179 7 117627537 stop gained C/T snp 5.6E-05 6.4E-05 0.010 1.000 1 1992 1992
dbSNP: rs7512462
rs7512462
4 0.878 0.179 1 205930467 intron variant T/C snp 0.37 0.010 1.000 1 2014 2014
dbSNP: rs75541969
rs75541969
7 0.801 0.143 7 117614699 missense variant G/C snp 4.0E-04 1.9E-04 0.010 1.000 1 2010 2010
dbSNP: rs77932196
rs77932196
4 0.878 0.107 7 117540270 stop gained G/A,C,T snp 2.4E-05; 2.4E-05 3.2E-05 0.010 1.000 1 1996 1996