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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2016 2016
dbSNP: rs7605378
rs7605378
FTCDNL1
2 0.925 0.120 2 199812203 intron variant A/C snv 0.64 0.830 1.000 3 2011 2015
dbSNP: rs2292910
rs2292910
CRY2
3 1.000 0.080 11 45882062 3 prime UTR variant A/C snv 0.66 0.010 1.000 1 2016 2016
dbSNP: rs3134069
rs3134069
TNFRSF11B ; COLEC10
11 0.776 0.320 8 118952749 upstream gene variant A/C snv 9.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs3751143
rs3751143
P2RX7 ; LOC105370032
12 0.742 0.480 12 121184501 missense variant A/C;G snv 0.19; 4.0E-06 0.020 1.000 2 2017 2018
dbSNP: rs35767
rs35767
IGF1 ; LOC105369944
13 0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv 0.040 1.000 4 2015 2018
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: rs335170
rs335170
PRDM6
2 0.925 0.120 5 123146549 intron variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.050 1.000 5 2003 2014
dbSNP: rs1801197
rs1801197
CALCR
5 0.851 0.240 7 93426441 missense variant A/G snv 0.39 0.36 0.020 1.000 2 2013 2018
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: 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: 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: 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: rs13182402
rs13182402
ALDH7A1
4 0.925 0.160 5 126582456 intron variant A/G snv 0.15 0.800 1.000 1 2010 2010
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2014 2014
dbSNP: rs17277372
rs17277372
DNM3
2 0.925 0.120 1 172218334 intron variant A/G snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs1800780
rs1800780
NOS3
2 0.925 0.120 7 151001791 intron variant A/G snv 0.58 0.56 0.010 1.000 1 2014 2014
dbSNP: rs2981579
rs2981579
FGFR2
8 0.776 0.280 10 121577821 intron variant A/G snv 0.53 0.010 1.000 1 2019 2019
dbSNP: rs34920465
rs34920465 		9 0.807 0.160 1 22373858 intergenic variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs3759579
rs3759579
MARK3
2 0.925 0.120 14 103384935 upstream gene variant A/G snv 0.55 0.010 1.000 1 2018 2018
dbSNP: rs597319
rs597319
TMEM135
1 1.000 0.080 11 87142955 intron variant A/G snv 0.36 0.010 1.000 1 2014 2014
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 1.000 1 2019 2019