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: rs10488682
rs10488682
TPH1
2 1.000 0.160 11 18040935 5 prime UTR variant T/A snv 0.19 0.010 1.000 1 2008 2008
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: rs8179090
rs8179090
TIMP2
12 0.752 0.280 17 78925807 upstream gene variant C/G snv 1.6E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2013 2013
dbSNP: rs1800471
rs1800471
TGFB1
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2013 2013
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: rs1455114
rs1455114
SOX6
3 0.882 0.200 11 16194000 intron variant C/A snv 0.48 0.010 < 0.001 1 2019 2019
dbSNP: rs4969168
rs4969168
SOCS3
7 0.790 0.480 17 78357712 3 prime UTR variant A/G snv 0.71 0.010 < 0.001 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: rs763351020
rs763351020
SERPINE1
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2004 2004
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: rs17861031
rs17861031
PAX1
2 1.000 0.160 20 21706706 synonymous variant G/A snv 2.9E-02 5.6E-02 0.010 1.000 1 2019 2019
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: rs11063714
rs11063714
NTF3
1 1.000 0.160 12 5495767 intron variant G/A snv 5.5E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs201340156
rs201340156
NR5A1
3 0.882 0.200 9 124500571 missense variant G/A;C snv 6.7E-05 0.010 1.000 1 2016 2016
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: rs4753426
rs4753426
MTNR1B
6 0.827 0.280 11 92968430 upstream gene variant T/C snv 0.49 0.030 0.333 3 2007 2016
dbSNP: rs10830963
rs10830963
MTNR1B
27 0.776 0.400 11 92975544 intron variant C/G snv 0.22 0.010 < 0.001 1 2015 2015
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2006 2017
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: rs3025058
rs3025058
MMP3
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.010 < 0.001 1 2010 2010
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: 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