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: rs11554825
rs11554825
GPBAR1
3 0.882 0.120 2 218261086 5 prime UTR variant C/T snv 0.44 0.010 1.000 1 2020 2020
dbSNP: rs1333048
rs1333048
CDKN2B-AS1
24 0.683 0.320 9 22125348 intron variant A/C snv 0.44 0.010 1.000 1 2020 2020
dbSNP: rs3847987
rs3847987
VDR
4 0.882 0.160 12 47844285 3 prime UTR variant C/A snv 0.12 0.010 1.000 1 2020 2020
dbSNP: rs79783591
rs79783591
MC4R
1 1.000 0.080 18 60371544 missense variant A/T snv 1.0E-03 1.1E-04 0.710 1.000 1 2020 2020
dbSNP: rs10246939
rs10246939
TAS2R38 ; MGAM
6 0.851 0.240 7 141972804 missense variant T/C snv 0.49 0.47 0.010 1.000 1 2019 2019
dbSNP: rs10891319
rs10891319
SDHD
1 1.000 0.080 11 112096881 intron variant A/G snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs10919774
rs10919774 		1 1.000 0.080 1 199938588 intergenic variant A/G snv 5.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs1109859
rs1109859
PEMT
1 1.000 0.080 17 17521019 intron variant G/A snv 0.83 0.010 1.000 1 2019 2019
dbSNP: rs11205591
rs11205591 		1 1.000 0.080 1 39035577 downstream gene variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs11665896
rs11665896
FGF21
1 1.000 0.080 19 48758426 upstream gene variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs12152703
rs12152703
KLB
2 0.925 0.120 4 39420199 intron variant G/T snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs1275489527
rs1275489527
MYT1L
3 0.882 0.120 2 1917238 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs13188458
rs13188458 		4 0.882 0.160 5 8127718 intergenic variant T/G snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs13334070
rs13334070
RPGRIP1L
1 1.000 0.080 16 53691058 intron variant A/G snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs13447323
rs13447323
MC4R
1 1.000 0.080 18 60372261 missense variant G/A snv 9.5E-05 7.0E-05 0.710 1.000 1 2019 2019
dbSNP: rs1360780
rs1360780
FKBP5 ; LOC112267956
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs1567499068
rs1567499068
SCAPER
6 0.882 0.160 15 76574190 frameshift variant G/- delins 0.700 1.000 1 2019 2019
dbSNP: rs1642785
rs1642785
TP53
6 0.807 0.200 17 7676483 5 prime UTR variant G/A;C;T snv 1.2E-05; 0.67; 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs1800797
rs1800797
IL6 ; STEAP1B ; IL6-AS1
43 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 0.010 < 0.001 1 2019 2019
dbSNP: rs1803274
rs1803274
BCHE
13 0.763 0.360 3 165773492 missense variant C/T snv 0.18 0.18 0.010 1.000 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: rs2075654
rs2075654
DRD2
1 1.000 0.080 11 113418344 intron variant C/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs2231142
rs2231142
ABCG2
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2019 2019
dbSNP: rs223828
rs223828
CCL17
3 0.882 0.240 16 57413502 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs2331841
rs2331841 		5 1.000 0.080 18 60161404 upstream gene variant G/A snv 0.43 0.010 1.000 1 2019 2019