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: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.020 1.000 2 2012 2015
dbSNP: rs104886003
rs104886003
PIK3CA
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121913282
rs121913282
PIK3CA
4 0.882 0.040 3 179221072 missense variant A/C snv 0.010 1.000 1 2012 2012
dbSNP: rs1226994105
rs1226994105
PIK3CG
5 0.882 0.040 7 106868379 missense variant G/A snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1233296947
rs1233296947
CTNNB1
5 0.851 0.080 3 41225746 missense variant G/A snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1800449
rs1800449
LOX
33 0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 0.010 1.000 1 2012 2012
dbSNP: rs56307747
rs56307747
ELN ; ELN-AS1
8 0.776 0.160 7 74059952 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs752742313
rs752742313
PIK3CB
36 0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs758300152
rs758300152
FSCB
3 0.882 0.040 14 44504889 missense variant T/C;G snv 1.6E-05; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1906953
rs1906953
GRM4
4 0.882 0.040 6 34068669 intron variant C/T snv 0.25 0.820 1.000 3 2013 2016
dbSNP: rs10208273
rs10208273 		3 0.882 0.040 2 6383862 intergenic variant A/G snv 0.30 0.710 1.000 2 2013 2014
dbSNP: rs1047768
rs1047768
ERCC5 ; BIVM-ERCC5
20 0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59 0.020 1.000 2 2013 2018
dbSNP: rs1057519736
rs1057519736
IDH2
13 0.752 0.160 15 90088605 missense variant C/G snv 0.020 1.000 2 2013 2014
dbSNP: rs17206779
rs17206779
ADAMTS6
3 0.882 0.040 5 65151950 splice region variant C/G;T snv 0.48 0.810 1.000 2 2013 2014
dbSNP: rs1800541
rs1800541
EDN1
5 0.851 0.120 6 12288986 upstream gene variant T/G snv 0.24 0.020 1.000 2 2013 2014
dbSNP: rs2070699
rs2070699
EDN1
14 0.752 0.080 6 12292539 intron variant G/C;T snv 0.45 0.020 0.500 2 2013 2014
dbSNP: rs7591996
rs7591996 		3 0.882 0.040 2 6321289 intron variant A/C snv 0.57 0.810 1.000 2 2013 2014
dbSNP: rs199812774
rs199812774
MDM2
3 0.882 0.040 12 68839357 synonymous variant T/C snv 1.8E-04 2.4E-04 0.010 1.000 1 2013 2013
dbSNP: rs201821879
rs201821879
MDM2
3 0.882 0.040 12 68809237 missense variant C/T snv 1.6E-04 1.9E-04 0.010 1.000 1 2013 2013
dbSNP: rs2086452
rs2086452
ADAMTS17
1 1.000 0.040 15 100188458 intron variant G/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs29001322
rs29001322
MMS19
3 0.882 0.040 10 97462918 non coding transcript exon variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs3212227
rs3212227
IL12B
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs568408
rs568408
IL12A ; IL12A-AS1
29 0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16 0.010 1.000 1 2013 2013
dbSNP: rs6973569
rs6973569
NPSR1-AS1
5 0.851 0.080 7 34583412 intron variant G/A snv 4.7E-02 0.010 1.000 1 2013 2013