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: rs4898
rs4898
SYN1 ; TIMP1 ; MIR4769
25 0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46 0.010 < 0.001 1 2018 2018
dbSNP: rs1303946678
rs1303946678
CYP2D6 ; NDUFA6-DT
3 0.925 0.040 22 42126851 missense variant C/G snv 0.010 1.000 1 2005 2005
dbSNP: rs150109621
rs150109621
CELSR1
3 1.000 0.040 22 46429532 intron variant C/T snv 5.9E-03 0.700 1.000 1 2019 2019
dbSNP: rs150381023
rs150381023
CELSR1
3 1.000 0.040 22 46423108 intron variant T/C snv 5.8E-03 0.700 1.000 1 2019 2019
dbSNP: rs1800206
rs1800206
PPARA
35 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 0.010 1.000 1 2011 2011
dbSNP: rs4819554
rs4819554
IL17RA
10 0.776 0.320 22 17084145 upstream gene variant G/A snv 0.84 0.010 1.000 1 2016 2016
dbSNP: rs535263906
rs535263906
CELSR1
3 1.000 0.040 22 46422493 intron variant G/A snv 8.6E-03 0.700 1.000 1 2019 2019
dbSNP: rs1805127
rs1805127
KCNE1
17 0.732 0.240 21 34449523 missense variant T/C snv 0.64 2.0E-04 0.010 1.000 1 2010 2010
dbSNP: rs460976
rs460976 		7 0.851 0.120 21 41463567 downstream gene variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs2866611
rs2866611 		16 0.851 0.120 20 41322165 upstream gene variant A/T snv 0.58 0.700 1.000 1 2016 2016
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.010 1.000 1 2018 2018
dbSNP: rs587782951
rs587782951
JPH2
6 0.807 0.080 20 44160305 missense variant G/T snv 0.010 1.000 1 2018 2018
dbSNP: rs6026584
rs6026584
GNAS
3 0.925 0.040 20 58894018 intron variant T/C snv 0.70 0.010 1.000 1 2013 2013
dbSNP: rs6123837
rs6123837
GNAS ; LOC101927932
2 0.925 0.040 20 58890516 synonymous variant G/A snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs760762
rs760762
PLCG1
16 0.851 0.120 20 41147406 intron variant C/A;T snv 0.59 0.700 1.000 1 2016 2016
dbSNP: rs911119
rs911119
CST3
9 0.807 0.120 20 23632100 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs3745297
rs3745297
HRC
10 0.790 0.120 19 49154952 missense variant A/C snv 0.41 0.38 0.020 1.000 2 2011 2018
dbSNP: rs10401969
rs10401969
SUGP1
25 0.776 0.240 19 19296909 intron variant T/C snv 0.10 0.700 1.000 1 2016 2016
dbSNP: rs10423928
rs10423928
GIPR
12 0.807 0.200 19 45679046 intron variant T/A snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs1800437
rs1800437
GIPR
13 0.827 0.160 19 45678134 missense variant G/C snv 0.18 0.17 0.010 1.000 1 2019 2019
dbSNP: rs200536955
rs200536955
HSPB6 ; PROSER3
3 0.925 0.040 19 35756980 missense variant G/A;T snv 7.0E-04 0.010 1.000 1 2018 2018
dbSNP: rs4420638
rs4420638
APOC1
43 0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs4528684
rs4528684 		1 1.000 0.040 19 14240762 intergenic variant C/T snv 0.12 0.800 1.000 1 2010 2010
dbSNP: rs4803750
rs4803750
BCL3
22 0.807 0.240 19 44744370 upstream gene variant A/G snv 7.7E-02 0.700 1.000 1 2016 2016
dbSNP: rs535039125
rs535039125
CYP2B6
5 0.851 0.040 19 41004380 missense variant C/T snv 1.1E-04 1.3E-04 0.010 1.000 1 2012 2012