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: rs161810
rs161810
TNFRSF9
4 0.925 0.120 1 7940737 intron variant T/C snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs161827
rs161827
TNFRSF9
2 1.000 0.040 1 7921974 3 prime UTR variant T/C snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs17106184
rs17106184
FAF1
3 0.925 0.080 1 50444313 intron variant G/A snv 8.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs17111503
rs17111503
PCSK9
7 0.925 0.160 1 55037775 upstream gene variant A/G snv 0.22 0.010 < 0.001 1 2017 2017
dbSNP: rs17568
rs17568
TNFRSF4
12 0.752 0.320 1 1212042 synonymous variant C/T snv 0.37 0.31 0.010 1.000 1 2011 2011
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2012 2012
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2013 2013
dbSNP: rs1967017
rs1967017 		5 0.882 0.160 1 145711421 upstream gene variant A/G snv 0.43 0.010 1.000 1 2016 2016
dbSNP: rs199976415
rs199976415
NR0B2 ; NUDC
2 1.000 0.040 1 26911982 missense variant G/A snv 6.0E-05 2.1E-05 0.010 1.000 1 2001 2001
dbSNP: rs200879349
rs200879349
SLC19A2
3 0.925 0.240 1 169468804 missense variant T/G snv 5.2E-05 6.3E-05 0.010 1.000 1 2019 2019
dbSNP: rs2070150
rs2070150
ATF6
6 0.827 0.280 1 161791486 missense variant G/C snv 0.14 9.2E-02 0.010 1.000 1 2013 2013
dbSNP: rs2146727
rs2146727
POU2F1
3 0.925 0.080 1 167312910 intron variant G/A snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs2228146
rs2228146
IL6R
3 0.925 0.120 1 154454574 missense variant G/A snv 1.3E-02; 4.0E-06 5.4E-02 0.010 1.000 1 2005 2005
dbSNP: rs2275558
rs2275558
PBX1
5 0.882 0.200 1 164559883 missense variant G/A snv 0.30 0.19 0.010 1.000 1 2005 2005
dbSNP: rs228648
rs228648
UTS2
13 0.776 0.360 1 7853370 missense variant G/A snv 0.51 0.52 0.010 1.000 1 2012 2012
dbSNP: rs267734
rs267734 		7 0.925 0.120 1 150979001 upstream gene variant T/C snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs2890565
rs2890565
UTS2
15 0.732 0.440 1 7849677 missense variant C/T snv 8.7E-02 5.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs28936379
rs28936379
PSEN2
10 0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06 0.010 < 0.001 1 1999 1999
dbSNP: rs35829419
rs35829419
NLRP3
23 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 0.010 1.000 1 2011 2011
dbSNP: rs3753886
rs3753886
TAF5L
2 1.000 0.040 1 229602423 synonymous variant T/A;G snv 5.2E-05; 0.56 0.010 1.000 1 2005 2005
dbSNP: rs3767434
rs3767434
POU2F1
3 0.925 0.080 1 167401914 intron variant T/C snv 0.14 0.010 1.000 1 2014 2014
dbSNP: rs3789678
rs3789678
AGT
5 1.000 0.040 1 230713736 intron variant C/T snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs3861950
rs3861950
TNFSF4
7 0.827 0.160 1 173187153 intron variant T/C snv 0.47 0.010 1.000 1 2013 2013
dbSNP: rs4641
rs4641
LMNA
6 0.851 0.120 1 156137743 splice region variant C/T snv 0.26 0.21 0.010 1.000 1 2007 2007