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: rs1163944538
rs1163944538
TMEM94
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1114167628
rs1114167628
PTEN
5 0.925 0.080 10 87961033 stop gained -/ATATCTAG delins 0.010 1.000 1 2013 2013
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.966 29 2003 2018
dbSNP: rs886040340
rs886040340
BRCA2
4 0.882 0.080 13 32319111 frameshift variant -/C delins 0.010 1.000 1 2017 2017
dbSNP: rs1205454520
rs1205454520
PTEN ; KLLN
10 0.763 0.120 10 87864059 5 prime UTR variant -/G delins 7.2E-06 0.030 1.000 3 2001 2015
dbSNP: rs1799732
rs1799732
DRD2 ; LOC105369501
11 0.790 0.160 11 113475529 intron variant -/G delins 0.010 1.000 1 2018 2018
dbSNP: rs1565486028
rs1565486028
ATM
1 11 108307917 frameshift variant -/G delins 0.700 0
dbSNP: rs878853941
rs878853941
PTEN
2 1.000 0.080 10 87952168 frameshift variant -/T delins 0.010 1.000 1 2000 2000
dbSNP: rs754284524
rs754284524
LOX ; SRFBP1
2 1.000 0.040 5 122074125 stop gained -/TACATGCTAGATTCATTTTAACTCAATACTGCCATTCAATTCTAGCAAC ins 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs3783553
rs3783553
IL1A
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.030 1.000 3 2015 2016
dbSNP: rs777875898
rs777875898
PTGR1
2 1.000 0.120 9 111594264 frameshift variant A/- del 4.0E-06 7.0E-06 0.020 1.000 2 2018 2019
dbSNP: rs886041332
rs886041332
PTEN
2 10 87960962 frameshift variant A/- del 0.010 1.000 1 2011 2011
dbSNP: rs1565400045
rs1565400045
ATM
1 11 108259050 frameshift variant A/- del 0.700 0
dbSNP: rs1064793929
rs1064793929
TP53
5 0.882 0.280 17 7675167 frameshift variant A/-;AA delins 0.010 1.000 1 2013 2013
dbSNP: rs386352352
rs386352352
PRKACA
6 0.851 0.080 19 14097604 missense variant A/C snv 0.020 1.000 2 2016 2017
dbSNP: rs735482
rs735482
ERCC1 ; CD3EAP
16 0.742 0.160 19 45408744 missense variant A/C snv 0.21 0.20 0.020 1.000 2 2017 2019
dbSNP: rs1057519697
rs1057519697
ALK
12 0.776 0.120 2 29220830 missense variant A/C snv 0.010 1.000 1 2018 2018
dbSNP: rs1057519785
rs1057519785
ALK
2 1.000 0.040 2 29222404 missense variant A/C snv 0.010 1.000 1 2011 2011
dbSNP: rs1057519820
rs1057519820
MAP2K1
1 15 66436810 missense variant A/C snv 0.700 1.000 1 2009 2009
dbSNP: rs11895168
rs11895168
ERBB4
4 0.925 0.080 2 211377467 3 prime UTR variant A/C snv 0.68 0.010 1.000 1 2016 2016
dbSNP: rs121918683
rs121918683
MYC ; CASC11
2 1.000 0.160 8 127738519 missense variant A/C snv 0.700 1.000 1 2014 2014
dbSNP: rs1304149814
rs1304149814
PIK3CB
1 3 138699042 missense variant A/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs13071247
rs13071247
CD80
1 3 119547946 intron variant A/C snv 0.14 0.010 1.000 1 2013 2013
dbSNP: rs1367215622
rs1367215622
PHLPP2
2 1.000 0.120 16 71714618 missense variant A/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs144848
rs144848
BRCA2
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2010 2010