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: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2016 2016
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs80338880
rs80338880
TFR2
12 0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1325757098
rs1325757098
TAT ; TAT-AS1
6 0.827 0.160 16 71576223 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs559063155
rs559063155
SF3B1
14 0.732 0.280 2 197402110 stop gained T/A;C;G snv 9.0E-05 0.010 1.000 1 2017 2017
dbSNP: rs1470755915
rs1470755915
RUNX1T1
10 0.776 0.240 8 92005229 missense variant C/A snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs927698341
rs927698341
RUNX1T1
10 0.776 0.240 8 92005280 synonymous variant C/A snv 4.0E-06 2.8E-05 0.010 1.000 1 2011 2011
dbSNP: rs121918464
rs121918464
PTPN11
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs562015640
rs562015640
PTEN
16 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs1799929
rs1799929
NAT2
11 0.776 0.240 8 18400484 synonymous variant C/T snv 0.36 0.36 0.010 1.000 1 2019 2019
dbSNP: rs1801280
rs1801280
NAT2
14 0.716 0.440 8 18400344 missense variant T/C snv 0.38 0.39 0.010 1.000 1 2019 2019
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2012 2012
dbSNP: rs1532268
rs1532268
MTRR
12 0.776 0.280 5 7878066 missense variant C/T snv 0.31 0.32 0.010 1.000 1 2012 2012
dbSNP: rs2295080
rs2295080
MTOR
20 0.695 0.320 1 11262571 upstream gene variant G/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 2002 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2007 2012
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 2012 2012
dbSNP: rs751689316
rs751689316
MECOM
4 0.925 0.080 3 169131510 missense variant C/T snv 1.2E-05 0.010 1.000 1 2008 2008
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 2006 2006
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.030 1.000 3 2005 2013
dbSNP: rs2230724
rs2230724
JAK2 ; INSL6
4 0.851 0.120 9 5081780 synonymous variant G/A snv 0.53 0.62 0.010 1.000 1 2012 2012
dbSNP: rs11978267
rs11978267
IKZF1
9 0.763 0.240 7 50398606 intron variant A/G snv 0.25 0.010 1.000 1 2014 2014
dbSNP: rs4132601
rs4132601
IKZF1
9 0.763 0.240 7 50402906 3 prime UTR variant T/G snv 0.25 0.010 1.000 1 2014 2014