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: rs145067756
rs145067756
UBE2Z
1 17 48923631 intron variant -/AAACAATGTCACAG;AAAGAATGTCACAG;AAAGAATGTCGCAG;AATGTCACAG;AGAGAATGTCACAG delins 0.40 0.700 1.000 1 2011 2011
dbSNP: rs779957223
rs779957223
NLRP12
2 1.000 0.040 19 53804069 frameshift variant -/AG ins 1.2E-05 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 1.000 3 2011 2019
dbSNP: rs148158062
rs148158062
LINC00624
1 1 147468451 intron variant -/GTTCCTTC delins 0.700 1.000 1 2011 2011
dbSNP: rs56352300
rs56352300
LINC00624
1 1 147468451 intron variant -/GTTCCTTC delins 0.42 0.700 1.000 1 2011 2011
dbSNP: rs34234989
rs34234989
PROCR ; MMP24-AS1-EDEM2
5 0.882 0.120 20 35186731 intron variant A/- delins 0.40 0.700 1.000 1 2016 2016
dbSNP: rs1186757238
rs1186757238
PDE4D
2 1.000 0.040 5 59039089 5 prime UTR variant A/C snv 0.010 1.000 1 2008 2008
dbSNP: rs1333048
rs1333048
CDKN2B-AS1
24 0.683 0.320 9 22125348 intron variant A/C snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs1711972
rs1711972
FOXF2 ; LOC105374880
3 0.925 0.160 6 1388953 upstream gene variant A/C snv 4.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs2980853
rs2980853 		16 0.851 0.120 8 125466108 upstream gene variant A/C snv 0.43 0.700 1.000 1 2016 2016
dbSNP: rs371045754
rs371045754
F9
4 0.882 0.200 X 139530726 upstream gene variant A/C snv 5.5E-06 1.9E-05 0.010 1.000 1 2015 2015
dbSNP: rs463312
rs463312
TUBB1
4 1.000 0.040 20 59022915 missense variant A/C snv 7.7E-02 5.7E-02 0.010 1.000 1 2007 2007
dbSNP: rs7201
rs7201
MMP2
4 0.925 0.160 16 55505702 3 prime UTR variant A/C snv 0.37 0.010 < 0.001 1 2018 2018
dbSNP: rs783396
rs783396
CRYBG1
2 1.000 0.080 6 106539495 missense variant A/C snv 0.93 0.93 0.010 1.000 1 2012 2012
dbSNP: rs9351814
rs9351814 		4 0.882 0.040 6 71484004 intergenic variant A/C snv 0.35 0.700 1.000 1 2014 2014
dbSNP: rs72664207
rs72664207
ABCC6
6 0.882 0.240 16 16185039 splice region variant A/C snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs1044498
rs1044498
ENPP1
15 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs1052053
rs1052053
PMF1 ; PMF1-BGLAP
3 1.000 0.080 1 156232382 missense variant A/C;G snv 1.0E-03; 0.38 0.700 1.000 1 2018 2018
dbSNP: rs1057910
rs1057910
CYP2C9
12 0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs118192162
rs118192162
RYR1
6 0.851 0.120 19 38455359 missense variant A/C;G snv 0.010 1.000 1 2008 2008
dbSNP: rs14259
rs14259
PSMD9
19 0.724 0.360 12 121915890 missense variant A/C;G snv 4.0E-06; 0.32 0.010 1.000 1 2011 2011
dbSNP: rs17329620
rs17329620 		1 12 87757000 upstream gene variant A/C;G snv 0.11 0.700 1.000 1 2013 2013
dbSNP: rs397514465
rs397514465
PDE4D
3 0.925 0.280 5 59193507 missense variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2010 2010
dbSNP: rs61749020
rs61749020
NOTCH3
1 19 15189325 synonymous variant A/C;G;T snv 2.6E-02 0.010 1.000 1 2013 2013