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: rs63750953
rs63750953
HBB
10 0.790 0.400 11 5227097 5 prime UTR variant TT/- delins 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs886040857
rs886040857
EIF2S3
7 0.882 0.240 X 24076757 frameshift variant TCAA/- delins 0.700 0
dbSNP: rs1057515576
rs1057515576
ARL6
9 0.807 0.280 3 97787991 frameshift variant TAT/GAAAA delins 0.700 0
dbSNP: rs52820871
rs52820871
MC4R
6 0.827 0.160 18 60371599 missense variant T/G snv 6.9E-03 7.6E-03 0.040 0.500 4 2007 2015
dbSNP: rs925946
rs925946
BDNF-AS
9 0.882 0.120 11 27645655 intron variant T/G snv 0.72 0.030 1.000 3 2013 2015
dbSNP: rs17818902
rs17818902
FTO
1 1.000 0.080 16 53837894 intron variant T/G snv 0.27 0.020 1.000 2 2013 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2007 2016
dbSNP: rs1057231
rs1057231
FSTL1 ; LOC100130701
1 1.000 0.080 3 120394556 3 prime UTR variant T/G snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs1075399
rs1075399
TMEM132C
1 1.000 0.080 12 128463014 intron variant T/G snv 0.010 1.000 1 2013 2013
dbSNP: rs12086634
rs12086634
HSD11B1 ; HSD11B1-AS1
6 0.827 0.280 1 209706914 intron variant T/G snv 0.21 0.20 0.010 1.000 1 2006 2006
dbSNP: rs12145833
rs12145833
SDCCAG8
1 1.000 0.080 1 243320452 intron variant T/G snv 0.11 0.800 1.000 1 2010 2010
dbSNP: rs1237063529
rs1237063529
CBS
13 0.752 0.360 21 43058894 missense variant T/G snv 5.6E-06 0.010 1.000 1 2007 2007
dbSNP: rs12721026
rs12721026
APOA1 ; APOA1-AS
1 1.000 0.080 11 116835452 upstream gene variant T/G snv 4.9E-02 0.010 1.000 1 2010 2010
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: rs1943226
rs1943226 		1 1.000 0.080 18 60367971 intron variant T/G snv 6.7E-02 0.010 1.000 1 2011 2011
dbSNP: rs2047433
rs2047433
SNRPN ; SNHG14
1 1.000 0.080 15 24883191 intron variant T/G snv 0.65 0.010 1.000 1 2017 2017
dbSNP: rs2112347
rs2112347
POC5 ; LOC441087
10 0.925 0.120 5 75719417 upstream gene variant T/G snv 0.42 0.800 1.000 1 2013 2013
dbSNP: rs2282679
rs2282679
GC
38 0.645 0.480 4 71742666 intron variant T/G snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs2295632
rs2295632
FAAH
1 1.000 0.080 1 46413890 downstream gene variant T/G snv 0.60 0.010 < 0.001 1 2010 2010
dbSNP: rs26802
rs26802
GHRL ; GHRLOS
3 0.925 0.160 3 10290681 intron variant T/G snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs2721
rs2721
INSIG1 ; LOC105375591
1 1.000 0.080 7 155296033 non coding transcript exon variant T/G snv 0.85 0.010 1.000 1 2019 2019
dbSNP: rs3758538
rs3758538
RBP4 ; FFAR4
2 1.000 0.080 10 93602293 intron variant T/G snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs753152
rs753152
RAMP2 ; RAMP2-AS1
6 0.882 0.160 17 42761487 intron variant T/G snv 0.12 0.010 < 0.001 1 2017 2017
dbSNP: rs7674434
rs7674434
KLB
2 0.925 0.120 4 39417789 intron variant T/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs781049584
rs781049584
APP
18 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 2011 2011