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: rs121913316
rs121913316
STK11
2 1.000 0.080 19 1220489 missense variant A/T snv 0.700 0
dbSNP: rs142771326
rs142771326
PPP2R1B
1 1.000 0.080 11 111766340 missense variant C/G;T snv 2.0E-04 5.2E-04 0.700 0
dbSNP: rs1446876735
rs1446876735
VHL
1 1.000 0.080 3 10142164 missense variant G/A snv 0.700 0
dbSNP: rs1805076
rs1805076
PPP2R1B
7 0.851 0.120 11 111764842 missense variant C/T snv 6.5E-03 7.0E-03 0.700 0
dbSNP: rs5030807
rs5030807
VHL
5 0.851 0.320 3 10142113 missense variant T/A;C snv 0.700 0
dbSNP: rs973682124
rs973682124
PPP2R1B
1 1.000 0.080 11 111743419 missense variant T/C snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs36600
rs36600
MTMR3
5 0.827 0.080 22 29941597 intron variant T/C snv 0.78 0.710 1.000 1 2011 2011
dbSNP: rs10484399
rs10484399 		4 0.851 0.240 6 27566749 intergenic variant A/G snv 5.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs10519198
rs10519198
IREB2
2 0.925 0.080 15 78450412 intron variant C/A;G snv 0.700 1.000 1 2012 2012
dbSNP: rs10849605
rs10849605
RAD52
4 0.882 0.080 12 955272 intron variant T/C snv 0.49 0.700 1.000 1 2012 2012
dbSNP: rs11072793
rs11072793
CHRNB4 ; LOC105370913 ; LOC112268142
2 1.000 0.080 15 78714100 intron variant G/A snv 0.58 0.700 1.000 1 2012 2012
dbSNP: rs11090598
rs11090598
HORMAD2
1 1.000 0.080 22 30125781 intron variant A/G snv 0.21 0.700 1.000 1 2011 2011
dbSNP: rs1150735
rs1150735
RNF39
3 0.925 0.200 6 30077422 upstream gene variant G/A snv 0.30 0.700 1.000 1 2012 2012
dbSNP: rs12167333
rs12167333
HORMAD2
1 1.000 0.080 22 30179823 downstream gene variant C/T snv 0.21 0.700 1.000 1 2011 2011
dbSNP: rs1233579
rs1233579 		3 0.925 0.160 6 28744886 intergenic variant A/G snv 7.2E-02 0.700 1.000 1 2012 2012
dbSNP: rs12446308
rs12446308
RBFOX1
1 1.000 0.080 16 6367932 intron variant A/G snv 8.8E-02 0.700 1.000 1 2009 2009
dbSNP: rs1245371
rs1245371
PPP1R11 ; RNF39
1 1.000 0.080 6 30070575 3 prime UTR variant A/G snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs1270942
rs1270942
CFB ; CYP21A2
11 0.742 0.440 6 31951083 non coding transcript exon variant A/G snv 7.5E-02 0.700 1.000 1 2012 2012
dbSNP: rs13211507
rs13211507
PGBD1
4 0.882 0.200 6 28289600 intron variant T/C snv 6.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs13314271
rs13314271
TP63
2 0.925 0.080 3 189639813 intron variant T/C snv 0.45 0.700 1.000 1 2014 2014
dbSNP: rs1655902
rs1655902
HLA-A
1 1.000 0.080 6 29949078 downstream gene variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs174534
rs174534
MYRF ; TMEM258
3 1.000 0.080 11 61781986 non coding transcript exon variant A/G snv 0.28 0.700 1.000 1 2011 2011
dbSNP: rs174549
rs174549
FADS1 ; FADS2
12 0.851 0.240 11 61803910 5 prime UTR variant G/A snv 0.26 0.700 1.000 1 2011 2011
dbSNP: rs174570
rs174570
FADS2
11 0.882 0.200 11 61829740 intron variant C/T snv 0.15 0.700 1.000 1 2011 2011
dbSNP: rs174577
rs174577
FADS2
13 1.000 0.080 11 61837342 intron variant C/A snv 0.38 0.700 1.000 1 2011 2011