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: rs11071938
rs11071938
SMAD3
1 1.000 0.080 15 67127649 intron variant C/T snv 0.27 0.010 1.000 1 2020 2020
dbSNP: rs11632964
rs11632964
SMAD3
2 1.000 0.080 15 67071235 intron variant C/G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs13213007
rs13213007
HDAC2
1 1.000 0.080 6 113961317 intron variant G/A snv 0.22 0.010 1.000 1 2020 2020
dbSNP: rs2067051
rs2067051
MRPL23 ; H19 ; MIR675
3 0.882 0.120 11 1996938 non coding transcript exon variant C/A;T snv 7.0E-06; 0.41 0.010 1.000 1 2020 2020
dbSNP: rs217727
rs217727
MRPL23 ; H19 ; HOTS
34 0.641 0.480 11 1995678 non coding transcript exon variant G/A snv 0.20 0.010 1.000 1 2020 2020
dbSNP: rs2839698
rs2839698
MRPL23 ; H19 ; MIR675
25 0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 0.010 < 0.001 1 2020 2020
dbSNP: rs4929984
rs4929984
MRPL23 ; H19
2 0.925 0.160 11 2003453 upstream gene variant C/A snv 0.010 < 0.001 1 2020 2020
dbSNP: rs60571065
rs60571065
PPARGC1A
1 1.000 0.080 4 23875164 intron variant T/A;C snv 0.010 1.000 1 2020 2020
dbSNP: rs1213277193
rs1213277193
ROS1
2 1.000 0.080 6 117359856 missense variant C/T snv 1.4E-05 0.020 1.000 2 2019 2019
dbSNP: rs201661522
rs201661522
ABCB1
2 1.000 0.080 7 87539293 missense variant A/G snv 6.4E-05 1.0E-04 0.020 1.000 2 2019 2019
dbSNP: rs1026411
rs1026411
PCAT1 ; LOC105375751
5 0.827 0.080 8 127014165 intron variant G/A;C snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs10429489
rs10429489 		2 0.925 0.080 9 21787522 intergenic variant G/A snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs1046175
rs1046175
PAOX
4 0.851 0.080 10 133391446 stop gained C/A;G;T snv 1.2E-05; 0.88 0.010 1.000 1 2019 2019
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs1051753269
rs1051753269
EGFR
7 0.790 0.120 7 55174029 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs10741657
rs10741657
CYP2R1
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2019 2019
dbSNP: rs11045585
rs11045585
SLCO1B3 ; SLCO1B3-SLCO1B7
1 1.000 0.080 12 20892760 intron variant A/G snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs11375254
rs11375254
TP63
3 0.882 0.080 3 189625454 intergenic variant A/-;AA;AAA;AAAA delins 0.700 1.000 1 2019 2019
dbSNP: rs1200399
rs1200399
BAZ1A
2 0.925 0.080 14 34823979 intron variant C/T snv 0.87 0.700 1.000 1 2019 2019
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs12265047
rs12265047
VTI1A
1 1.000 0.080 10 112728166 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs1273957629
rs1273957629
TSC2
1 1.000 0.080 16 2076130 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs13167280
rs13167280
TERT
1 1.000 0.080 5 1280362 intron variant G/A snv 0.13 0.11 0.700 1.000 1 2019 2019
dbSNP: rs1458974438
rs1458974438
STK11
9 0.807 0.080 19 1206957 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1732786
rs1732786
DTX1
1 1.000 0.080 12 113057841 5 prime UTR variant G/A snv 0.65 0.010 1.000 1 2019 2019