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: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 0.500 2 2011 2012
dbSNP: rs1131691014
rs1131691014
TP53
213 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2011 2012
dbSNP: rs4746
rs4746
GLO1
21 0.708 0.400 6 38682852 missense variant T/A;G snv 0.36 0.020 1.000 2 2008 2010
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 0.500 2 2011 2012
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2011 2011
dbSNP: rs10719
rs10719
DROSHA
24 0.677 0.680 5 31401340 3 prime UTR variant A/G;T snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs121964877
rs121964877
CDH1
3 0.851 0.160 16 68822081 stop gained C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs17879961
rs17879961
CHEK2
45 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.010 1.000 1 2011 2011
dbSNP: rs1801177
rs1801177
LPL
13 0.742 0.240 8 19948197 missense variant G/A;C snv 1.4E-02; 2.0E-05 0.010 1.000 1 1995 1995
dbSNP: rs1805192
rs1805192
PPARG
117 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2014 2014
dbSNP: rs1860661
rs1860661
TCF3
3 0.882 0.120 19 1650135 intron variant A/C;G snv 6.7E-06; 0.54 0.810 1.000 1 2014 2014
dbSNP: rs2228570
rs2228570
VDR
98 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2014 2014
dbSNP: rs2281997
rs2281997
ENHO
5 0.882 0.240 9 34521869 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs2292779
rs2292779
AGO2
4 0.851 0.320 8 140551294 intron variant G/C;T snv 0.57; 4.9E-06 0.010 1.000 1 2018 2018
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2002 2002
dbSNP: rs397507545
rs397507545
PTPN11
5 0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs4918
rs4918
AHSG
12 0.763 0.400 3 186620593 missense variant G/A;C snv 0.67 0.010 < 0.001 1 2007 2007
dbSNP: rs4986790
rs4986790
TLR4
221 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs649775
rs649775 		3 0.882 0.120 6 33716536 upstream gene variant A/G;T snv 0.710 1.000 1 2018 2018
dbSNP: rs759412116
rs759412116
ERCC2
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2009 2009
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
181 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2006 2006
dbSNP: rs7895833
rs7895833 		12 0.742 0.440 10 67863299 upstream gene variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs872071
rs872071
IRF4
10 0.742 0.360 6 411064 3 prime UTR variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs9657182
rs9657182
IDO1
6 0.851 0.280 8 39908329 intron variant C/G;T snv 0.010 1.000 1 2018 2018
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 2002 2002