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: rs1149048
rs1149048
MATN1-AS1
3 0.925 0.200 1 30725886 non coding transcript exon variant A/C;G snv 0.020 1.000 2 2009 2014
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2006 2017
dbSNP: rs1065755
rs1065755
MATN1
1 1.000 0.160 1 30715242 synonymous variant C/T snv 0.33 0.33 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 0.010 1.000 1 2006 2006
dbSNP: rs2767485
rs2767485
LEPR
1 1.000 0.160 1 65513234 intron variant T/C snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs777772044
rs777772044
MUC1
2 1.000 0.160 1 155186160 missense variant A/C;G snv 1.5E-05 0.010 1.000 1 2008 2008
dbSNP: rs951366
rs951366
NUCKS1
4 0.925 0.240 1 205716224 3 prime UTR variant T/C snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs763296857
rs763296857
SRD5A2
3 0.882 0.200 2 31529427 missense variant T/C snv 1.6E-05 2.8E-05 0.010 < 0.001 1 2019 2019
dbSNP: rs10510181
rs10510181
CHL1-AS2
4 0.882 0.200 3 149364 intron variant G/A snv 0.31 0.010 1.000 1 2014 2014
dbSNP: rs1204870496
rs1204870496
TP63
2 0.925 0.200 3 189789839 missense variant T/G snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs2055314
rs2055314
CHL1
2 0.925 0.200 3 227352 intron variant C/T snv 0.40 0.010 1.000 1 2014 2014
dbSNP: rs2272522
rs2272522
CHL1
2 0.925 0.200 3 319825 missense variant C/T snv 0.25 0.31 0.010 1.000 1 2014 2014
dbSNP: rs2272524
rs2272524
CHL1
1 1.000 0.160 3 349318 intron variant G/A;C;T snv 0.29 0.010 1.000 1 2014 2014
dbSNP: rs331894
rs331894
CHL1
2 0.925 0.200 3 295083 intron variant C/T snv 0.57 0.010 1.000 1 2014 2014
dbSNP: rs13107325
rs13107325
SLC39A8
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.020 0.500 2 2018 2020
dbSNP: rs11097773
rs11097773
SLC39A8
1 1.000 0.160 4 102304356 synonymous variant T/C snv 0.17 0.15 0.010 1.000 1 2020 2020
dbSNP: rs222020
rs222020
GC
5 0.851 0.320 4 71770555 intron variant C/T snv 0.72 0.010 1.000 1 2016 2016
dbSNP: rs12517904
rs12517904 		1 1.000 0.160 5 3607950 intergenic variant G/A;T snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs6892146
rs6892146
POC5 ; ANKDD1B
1 1.000 0.160 5 75676165 intron variant C/G snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs6570507
rs6570507
ADGRG6
13 0.827 0.240 6 142358435 intron variant G/A snv 0.47 0.030 1.000 3 2015 2018
dbSNP: rs7774095
rs7774095
ADGRG6
3 1.000 0.160 6 142349725 intron variant C/A snv 0.37 0.020 1.000 2 2015 2017
dbSNP: rs41289839
rs41289839
ADGRG6
1 1.000 0.160 6 142383933 intron variant G/A snv 7.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs7755109
rs7755109
ADGRG6
3 1.000 0.160 6 142429255 intron variant A/G snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2011 2011
dbSNP: rs9403380
rs9403380
ADGRG6
1 1.000 0.160 6 142331279 intron variant T/A;C;G snv 0.010 1.000 1 2017 2017