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: 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: rs10203122
rs10203122
FTCDNL1
1 1.000 0.080 2 199831723 intron variant T/C snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs1038304
rs1038304
CCDC170 ; LOC107986528
4 0.882 0.160 6 151612040 intron variant A/G snv 0.58 0.010 1.000 1 2011 2011
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2016 2016
dbSNP: rs1044032
rs1044032
SQOR
2 0.925 0.080 15 45676237 missense variant T/C snv 0.24 0.19 0.010 1.000 1 2015 2015
dbSNP: rs104895278
rs104895278
TNFRSF1A
1 1.000 0.080 12 6333469 missense variant C/T snv 2.3E-04 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2009 2009
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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2016 2016
dbSNP: rs1137100
rs1137100
LEPR
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.010 1.000 1 2013 2013
dbSNP: rs1137101
rs1137101
LEPR
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2013 2013
dbSNP: rs11556218
rs11556218
IL16
27 0.653 0.600 15 81305928 missense variant T/G snv 9.6E-02 0.12 0.010 1.000 1 2017 2017
dbSNP: rs1181712311
rs1181712311
GPR42
1 1.000 0.080 19 35371499 missense variant C/T snv 1.5E-05 0.010 1.000 1 2013 2013
dbSNP: rs121909798
rs121909798
VDR
2 0.925 0.200 12 47846444 missense variant G/C snv 0.010 1.000 1 2015 2015
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: rs1255801434
rs1255801434
SLCO6A1
1 1.000 0.080 5 102438650 missense variant T/C snv 4.3E-06 0.010 1.000 1 2012 2012
dbSNP: rs1256044
rs1256044
ESR2
1 1.000 0.080 14 64267309 intron variant G/A snv 0.66 0.010 1.000 1 2018 2018
dbSNP: rs12673692
rs12673692
THSD7A
2 0.925 0.120 7 11528903 intron variant G/A snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs12742784
rs12742784 		2 1.000 0.080 1 22355873 intergenic variant C/A;T snv 0.010 1.000 1 2020 2020
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2008 2008
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: rs1440203097
rs1440203097
ADRA2B
1 1.000 0.080 2 96116013 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs145438594
rs145438594
VDR
1 1.000 0.080 12 47879073 missense variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1471400
rs1471400 		1 1.000 0.080 4 87853095 regulatory region variant G/A snv 0.38 0.010 1.000 1 2013 2013