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: rs779591039
rs779591039
SLPI ; LOC105372630
3 0.882 0.040 20 45253712 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs8103992
rs8103992 		3 0.882 0.040 19 19554834 regulatory region variant A/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs9866361
rs9866361
PIK3CA
3 0.882 0.040 3 179190061 intron variant G/A snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs998074
rs998074
IGF2R
3 0.882 0.040 6 160047351 intron variant T/A;C snv 0.53 0.010 1.000 1 2007 2007
dbSNP: rs998075
rs998075
IGF2R
3 0.882 0.040 6 160047246 synonymous variant A/G snv 0.53 0.54 0.010 1.000 1 2007 2007
dbSNP: rs1690916
rs1690916
MDM2
4 0.882 0.040 12 68841626 3 prime UTR variant G/A snv 0.35 0.020 0.500 2 2014 2016
dbSNP: rs1906953
rs1906953
GRM4
4 0.882 0.040 6 34068669 intron variant C/T snv 0.25 0.020 1.000 2 2014 2016
dbSNP: rs7034162
rs7034162
NFIB
4 0.882 0.040 9 14190288 intron variant A/T snv 0.81 0.020 1.000 2 2015 2019
dbSNP: rs10019009
rs10019009
DMP1 ; LOC105377323
4 0.851 0.080 4 87661983 missense variant A/G;T snv 4.0E-06; 0.29 0.010 1.000 1 2016 2016
dbSNP: rs11866002
rs11866002
CNOT1
4 0.851 0.120 16 58553833 synonymous variant C/T snv 0.35 0.39 0.010 1.000 1 2015 2015
dbSNP: rs1215600806
rs1215600806
ALPL
4 0.851 0.120 1 21564100 missense variant T/C snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs121913282
rs121913282
PIK3CA
4 0.882 0.040 3 179221072 missense variant A/C snv 0.010 1.000 1 2012 2012
dbSNP: rs1253660442
rs1253660442
SLC19A1
4 0.851 0.160 21 45531871 missense variant G/A;C snv 0.010 < 0.001 1 2017 2017
dbSNP: rs12602273
rs12602273
TP53
4 0.851 0.080 17 7679695 intron variant C/G snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs1416572796
rs1416572796
ALPL
4 0.851 0.120 1 21568170 missense variant G/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs143358506
rs143358506
ALPL
4 0.851 0.120 1 21560674 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs16948627
rs16948627
ITGA3
4 0.882 0.040 17 50063432 intron variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2230392
rs2230392
ITGA3
4 0.882 0.040 17 50078061 missense variant G/A snv 0.14 9.0E-02 0.010 1.000 1 2014 2014
dbSNP: rs2285524
rs2285524
ITGA3
4 0.882 0.040 17 50073989 synonymous variant T/C snv 0.21 0.24 0.010 1.000 1 2014 2014
dbSNP: rs4150506
rs4150506
ERCC3
4 0.851 0.120 2 127262970 intron variant G/A snv 0.18 0.010 < 0.001 1 2016 2016
dbSNP: rs4730222
rs4730222
HBP1
4 0.851 0.040 7 107169848 5 prime UTR variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs4789223
rs4789223
RECQL5 ; SMIM6
4 0.851 0.120 17 75645819 intron variant G/A snv 0.46 0.010 1.000 1 2014 2014
dbSNP: rs59267781
rs59267781
LMNA
4 0.851 0.120 1 156138657 missense variant C/G snv 0.010 1.000 1 2007 2007
dbSNP: rs7646409
rs7646409
PIK3CA
4 0.882 0.040 3 179182405 intron variant T/C snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs8064946
rs8064946
TP53 ; WRAP53
4 0.851 0.080 17 7685993 non coding transcript exon variant G/C snv 0.32 0.010 1.000 1 2015 2015