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: rs17028375
rs17028375 		1 1.000 0.080 2 64085008 downstream gene variant T/C snv 0.11 0.700 1.000 1 2011 2011
dbSNP: rs17090828
rs17090828
SLC22A17
1 1.000 0.080 14 23350604 intron variant C/G snv 5.1E-02 0.700 1.000 1 2011 2011
dbSNP: rs17168865
rs17168865
CHRM2 ; LOC349160
1 1.000 0.080 7 136998465 intron variant T/C snv 5.5E-02 0.700 1.000 1 2011 2011
dbSNP: rs2014300
rs2014300
RUNX1
5 0.851 0.080 21 34985564 intron variant A/G;T snv 0.75 0.700 1.000 1 2011 2011
dbSNP: rs2074356
rs2074356
HECTD4
18 0.763 0.280 12 112207597 intron variant G/A snv 3.8E-03 0.700 1.000 1 2011 2011
dbSNP: rs2833473
rs2833473
FBXW11P1
1 1.000 0.080 21 31627241 non coding transcript exon variant G/A snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs3782886
rs3782886
BRAP
22 0.724 0.480 12 111672685 synonymous variant T/C snv 1.9E-02 5.9E-03 0.700 1.000 1 2011 2011
dbSNP: rs413812
rs413812
HSP90AA6P
1 1.000 0.080 4 170588298 intron variant T/C snv 0.76 0.700 1.000 1 2011 2011
dbSNP: rs4646776
rs4646776
ALDH2
2 0.925 0.120 12 111792215 intron variant G/A;C snv 1.9E-02 5.8E-03 0.700 1.000 1 2011 2011
dbSNP: rs6062927
rs6062927
KCNQ2
1 1.000 0.080 20 63424660 intron variant G/A snv 0.21 0.700 1.000 1 2011 2011
dbSNP: rs6123557
rs6123557 		1 1.000 0.080 20 56232196 intergenic variant C/T snv 0.21 0.700 1.000 1 2011 2011
dbSNP: rs6583937
rs6583937
PLCE1 ; NOC3L
1 1.000 0.080 10 94323695 intron variant A/G snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs6772209
rs6772209 		2 1.000 0.080 3 175929377 intergenic variant G/A snv 4.1E-02 0.700 1.000 1 2011 2011
dbSNP: rs7726463
rs7726463 		1 1.000 0.080 5 37954971 intron variant T/C snv 9.1E-02 0.700 1.000 1 2011 2011
dbSNP: rs7982141
rs7982141
HSPH1
1 1.000 0.080 13 31136218 3 prime UTR variant C/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs8030672
rs8030672 		2 1.000 0.080 15 68766745 intergenic variant T/A snv 5.4E-02 0.700 1.000 1 2011 2011
dbSNP: rs8120594
rs8120594
NANP
1 1.000 0.080 20 25619019 intron variant A/G snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs917112
rs917112
PLOD3
1 1.000 0.080 7 101213710 intron variant T/C snv 1.1E-02 0.700 1.000 1 2011 2011
dbSNP: rs9868873
rs9868873
SEMA5B
2 1.000 0.080 3 123012063 intron variant G/A snv 0.28 0.700 1.000 1 2011 2011
dbSNP: rs104893819
rs104893819
TGFBR2
5 0.827 0.240 3 30688470 stop gained C/G;T snv 0.700 0
dbSNP: rs2231917
rs2231917
FBXO4
1 1.000 0.080 5 41925333 missense variant C/G snv 2.0E-02 1.1E-02 0.700 0
dbSNP: rs28934578
rs28934578
TP53
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs756762196
rs756762196
WWOX
4 0.851 0.120 16 78425054 stop gained C/G;T snv 1.6E-05 0.700 0
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 1.000 12 2005 2014
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.090 0.889 9 2009 2015