Source: ALL
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: rs7605378
rs7605378
FTCDNL1
2 0.925 0.120 2 199812203 intron variant A/C snv 0.64 0.830 1.000 3 2011 2015
dbSNP: rs2278729
rs2278729
TBC1D8
1 1.000 0.080 2 101052395 intron variant G/A snv 0.25 0.810 1.000 2 2010 2017
dbSNP: rs12151790
rs12151790 		1 1.000 0.080 2 234302083 regulatory region variant G/A snv 0.13 0.800 1.000 1 2010 2010
dbSNP: rs12808199
rs12808199 		1 1.000 0.080 11 39306409 intergenic variant G/A snv 0.47 0.800 1.000 1 2010 2010
dbSNP: rs13182402
rs13182402
ALDH7A1
4 0.925 0.160 5 126582456 intron variant A/G snv 0.15 0.800 1.000 1 2010 2010
dbSNP: rs17184557
rs17184557
DOK6
1 1.000 0.080 18 69475621 intron variant T/A snv 0.19 0.800 1.000 1 2010 2010
dbSNP: rs2062375
rs2062375
COLEC10
2 1.000 0.080 8 118965553 intergenic variant G/C snv 0.65 0.800 1.000 1 2010 2010
dbSNP: rs494453
rs494453
RAP1A ; KRT18P57
1 1.000 0.080 1 111649500 non coding transcript exon variant T/C snv 0.41 0.800 1.000 1 2010 2010
dbSNP: rs7227401
rs7227401
OSBPL1A
1 1.000 0.080 18 24358694 intron variant T/G snv 0.69 0.800 1.000 1 2010 2010
dbSNP: rs784288
rs784288
MECOM
2 1.000 0.080 3 169253443 intron variant A/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs397514702
rs397514702
WNT1 ; WNT10B
2 1.000 0.080 12 48981179 missense variant T/G snv 4.9E-05 7.0E-06 0.740 1.000 6 2013 2019
dbSNP: rs11872467
rs11872467
RAB31
1 1.000 0.080 18 9848005 intron variant G/A snv 3.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs12775980
rs12775980
SVIL
1 1.000 0.080 10 29570927 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs16965654
rs16965654
RPS16P8
1 1.000 0.080 17 27280666 non coding transcript exon variant G/A snv 1.6E-02 0.700 1.000 1 2010 2010
dbSNP: rs297325
rs297325
SOX6
2 0.925 0.120 11 16368048 intron variant T/C;G snv 0.700 1.000 1 2009 2009
dbSNP: rs4756846
rs4756846
SOX6
2 0.925 0.120 11 16381965 intron variant T/C snv 8.8E-02 0.700 1.000 1 2009 2009
dbSNP: rs387907359
rs387907359
WNT1 ; WNT10B
2 1.000 0.080 12 48981230 missense variant C/T snv 0.700 0
dbSNP: rs3736228
rs3736228
LRP5
13 0.752 0.400 11 68433827 missense variant C/T snv 0.13 0.11 0.090 1.000 9 2005 2017
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 2003 2014
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.050 1.000 5 2000 2013
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.040 1.000 4 2014 2018
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.040 1.000 4 2010 2019
dbSNP: rs35767
rs35767
IGF1 ; LOC105369944
13 0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv 0.040 1.000 4 2015 2018
dbSNP: rs4988321
rs4988321
LRP5
4 0.851 0.160 11 68406721 missense variant G/A;C snv 3.8E-02 0.040 0.750 4 2005 2019
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.030 1.000 3 2009 2015