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: rs12742784
rs12742784 		2 1.000 0.080 1 22355873 intergenic variant C/A;T snv 0.010 1.000 1 2020 2020
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: 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: 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: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.030 1.000 3 2015 2019
dbSNP: rs12218
rs12218
SAA1
11 0.763 0.280 11 18269774 synonymous variant T/C snv 0.42 0.36 0.020 1.000 2 2013 2019
dbSNP: rs12585014
rs12585014
TNFSF11
2 1.000 0.080 13 42566423 intron variant G/A snv 0.18 0.020 0.500 2 2018 2019
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.020 0.500 2 2014 2019
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.020 1.000 2 2013 2019
dbSNP: rs2501431
rs2501431
CNR2
1 1.000 0.080 1 23875153 synonymous variant G/A snv 0.62 0.64 0.020 1.000 2 2015 2019
dbSNP: rs3003336
rs3003336
CNR2
1 1.000 0.080 1 23874958 synonymous variant C/T snv 0.62 0.64 0.020 1.000 2 2015 2019
dbSNP: rs3018362
rs3018362 		4 0.882 0.120 18 62414860 upstream gene variant A/G snv 0.67 0.020 0.500 2 2018 2019
dbSNP: rs3102735
rs3102735
TNFRSF11B ; COLEC10
12 0.752 0.400 8 118952831 upstream gene variant T/C snv 0.17 0.020 1.000 2 2014 2019
dbSNP: rs4237
rs4237
PITHD1
1 1.000 0.080 1 23787639 3 prime UTR variant G/A snv 0.64 0.020 0.500 2 2015 2019
dbSNP: rs6426749
rs6426749 		3 1.000 0.080 1 22384980 intergenic variant G/C snv 0.19 0.020 1.000 2 2018 2019
dbSNP: rs10085588
rs10085588
SEM1 ; LOC105375411 ; LOC105375412
3 1.000 0.080 7 96508362 intron variant A/G snv 0.72 0.010 1.000 1 2019 2019
dbSNP: rs1057317
rs1057317
TLR4
5 0.827 0.160 9 117715764 3 prime UTR variant C/A snv 0.010 1.000 1 2019 2019
dbSNP: rs10832915
rs10832915
SAA1
1 1.000 0.080 11 18269516 intron variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1219648
rs1219648
FGFR2
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs140121121
rs140121121
PLS3
1 1.000 0.080 X 115629281 synonymous variant T/A snv 1.5E-02 1.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs1554606
rs1554606
IL6 ; IL6-AS1
2 0.925 0.120 7 22729088 intron variant T/A;G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs2069849
rs2069849
IL6
3 0.882 0.120 7 22731537 missense variant C/G;T snv 4.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs2229579
rs2229579
CNR2
2 0.925 0.120 1 23874672 missense variant G/A;T snv 0.10; 8.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs2297480
rs2297480
FDPS
4 0.851 0.280 1 155309691 non coding transcript exon variant T/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs2420946
rs2420946
FGFR2
4 0.851 0.160 10 121591810 intron variant T/C snv 0.56 0.010 1.000 1 2019 2019