Source: BEFREE ×
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: rs2344484
rs2344484 		3 0.925 0.040 5 135540941 upstream gene variant A/G snv 0.47 0.010 1.000 1 2008 2008
dbSNP: rs2731880
rs2731880 		2 0.925 0.040 5 36603282 upstream gene variant T/C snv 0.52 0.010 1.000 1 2014 2014
dbSNP: rs3088077
rs3088077
NEDD4
2 0.925 0.040 15 55827379 3 prime UTR variant C/T snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs376158951
rs376158951
OTUD4
1 1.000 0.040 4 145162664 missense variant T/C snv 1.3E-05 0.010 1.000 1 2014 2014
dbSNP: rs4354668
rs4354668
SLC1A2
3 0.882 0.040 11 35419429 5 prime UTR variant T/G snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs457274
rs457274
MX1
2 1.000 0.040 21 41420558 5 prime UTR variant C/G snv 0.35 0.010 1.000 1 2012 2012
dbSNP: rs469083
rs469083
MX1
2 1.000 0.040 21 41436789 intron variant C/T snv 0.61 0.010 1.000 1 2012 2012
dbSNP: rs564919438
rs564919438
MUTYH
2 1.000 0.040 1 45332421 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs587776703
rs587776703
SCN8A
3 0.925 0.040 12 51806642 frameshift variant CT/- del 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs62043855
rs62043855
NEDD4
1 1.000 0.040 15 55915613 missense variant T/A;G snv 0.15 0.010 1.000 1 2019 2019
dbSNP: rs62170897
rs62170897
LRRTM4
1 1.000 0.040 2 77031414 intron variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs62171995
rs62171995
LRRTM4 ; LRRTM4-AS1
1 1.000 0.040 2 77001194 intron variant G/A snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs6439886
rs6439886
CLSTN2
1 1.000 0.040 3 139963653 intron variant A/G snv 0.14 0.010 1.000 1 2012 2012
dbSNP: rs7157599
rs7157599
DEGS2
3 0.925 0.040 14 100159565 missense variant C/T snv 0.73 0.76 0.010 1.000 1 2015 2015
dbSNP: rs728524
rs728524
ESR1
1 1.000 0.040 6 151982302 intron variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs754992211
rs754992211
SEPSECS
1 1.000 0.040 4 25124116 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs761715536
rs761715536
ADRA2A
3 1.000 0.040 10 111079092 stop gained G/A;T snv 6.4E-06; 1.3E-05 0.010 1.000 1 2019 2019
dbSNP: rs772720363
rs772720363
CHRNA4
2 1.000 0.040 20 63350819 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs7759295
rs7759295
LOC105375056
2 1.000 0.040 6 41168112 upstream gene variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs781442277
rs781442277
CENPO ; PTRHD1 ; LOC105369164
3 1.000 0.040 2 24793223 missense variant C/T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs8074995
rs8074995
PRKCA
5 0.925 0.040 17 66796013 intron variant G/A snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs8179176
rs8179176
ESR1
1 1.000 0.040 6 151842199 intron variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs9526984
rs9526984
KL
2 1.000 0.040 13 33035800 intron variant A/G snv 5.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs10521467
rs10521467
PCSK5
1 0.925 0.080 9 76036575 intron variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs11564148
rs11564148
LRRK2
4 0.851 0.080 12 40320099 missense variant T/A snv 0.30 0.27 0.010 < 0.001 1 2015 2015