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: rs1801132
rs1801132
ESR1
22 0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80 0.060 1.000 6 2007 2015
dbSNP: rs26279
rs26279
MSH3
9 0.790 0.160 5 80873118 missense variant G/A snv 0.73 0.70 0.020 1.000 2 2009 2015
dbSNP: rs5743810
rs5743810
TLR1 ; TLR6
21 0.689 0.360 4 38828729 missense variant A/G snv 0.73 0.72 0.010 1.000 1 2018 2018
dbSNP: rs11523871
rs11523871
DMBT1
2 0.925 0.080 10 122570194 missense variant C/A snv 0.72 0.69 0.010 1.000 1 2010 2010
dbSNP: rs462779
rs462779
REV3L ; MFSD4B
4 0.851 0.120 6 111374684 missense variant G/A snv 0.72 0.67 0.010 1.000 1 2011 2011
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.100 0.700 20 2010 2019
dbSNP: rs2229611
rs2229611
G6PC
4 0.851 0.160 17 42911449 3 prime UTR variant T/C snv 0.71 0.73 0.010 < 0.001 1 2017 2017
dbSNP: rs2305160
rs2305160
NPAS2 ; NPAS2-AS1
9 0.776 0.200 2 100974842 missense variant A/G snv 0.71 0.75 0.040 1.000 4 2008 2012
dbSNP: rs8109631
rs8109631
ZNF331
3 0.882 0.080 19 53576890 synonymous variant A/G snv 0.70 0.76 0.010 1.000 1 2017 2017
dbSNP: rs2292912
rs2292912
CRY2
4 0.851 0.120 11 45856137 non coding transcript exon variant C/A;G;T snv 8.0E-06; 0.69 0.010 1.000 1 2019 2019
dbSNP: rs9306160
rs9306160
RRP1B
5 0.925 0.080 21 43687681 missense variant T/C snv 0.69 0.73 0.010 1.000 1 2015 2015
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 2014 2014
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2012 2012
dbSNP: rs2295283
rs2295283
MIIP
2 0.925 0.080 1 12022869 stop gained A/G;T snv 0.68 0.010 1.000 1 2010 2010
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.878 49 2001 2019
dbSNP: rs4646
rs4646
CYP19A1 ; MIR4713HG
16 0.716 0.360 15 51210647 3 prime UTR variant A/C snv 0.67 0.70 0.100 1.000 10 2008 2015
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.833 48 2003 2020
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2015 2015
dbSNP: rs4636297
rs4636297
EGFL7 ; MIR126
14 0.724 0.360 9 136670698 intron variant A/G snv 0.67 0.65 0.010 1.000 1 2011 2011
dbSNP: rs523349
rs523349
SRD5A2
21 0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06 0.040 0.500 4 2002 2015
dbSNP: rs1776148
rs1776148
EXO1
9 0.807 0.160 1 241879243 missense variant A/G snv 0.66 0.66 0.010 1.000 1 2009 2009
dbSNP: rs2290854
rs2290854
MDM4
2 0.925 0.080 1 204546897 intron variant A/G snv 0.65 0.57 0.010 1.000 1 2013 2013
dbSNP: rs3130932
rs3130932
POU5F1 ; TCF19
4 0.925 0.080 6 31166166 5 prime UTR variant C/A snv 0.65 0.69 0.010 1.000 1 2014 2014
dbSNP: rs1864112
rs1864112
GTPBP3
2 0.925 0.080 19 17338152 missense variant A/C;T snv 0.64 0.010 1.000 1 2014 2014
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.040 1.000 4 2008 2016