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: rs746339472
rs746339472
PTCH1
2 1.000 0.040 9 95506413 missense variant C/T snv 8.0E-06 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs774885952
rs774885952
GLI1
2 1.000 0.040 12 57464828 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs912880810
rs912880810
SMO
2 1.000 0.040 7 129203401 missense variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs937023804
rs937023804
PTCH1
2 1.000 0.040 9 95479023 missense variant C/T snv 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs13014235
rs13014235
FLACC1
5 0.851 0.040 2 201350769 missense variant C/G snv 0.62 0.63 0.010 1.000 1 2017 2017
dbSNP: rs16917546
rs16917546
ZNF365 ; LOC105378327
6 0.851 0.040 10 62637778 intron variant T/C snv 0.29 0.010 1.000 1 2017 2017
dbSNP: rs2805831
rs2805831
PTCSC2
2 1.000 0.040 9 97704354 intron variant G/A snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs361525
rs361525
TNF
62 0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs3769823
rs3769823
CASP8
6 0.851 0.040 2 201258272 missense variant A/G snv 0.66 0.65 0.010 1.000 1 2017 2017
dbSNP: rs57343616
rs57343616
NABP2 ; SLC39A5
2 1.000 0.040 12 56229563 3 prime UTR variant C/T snv 4.2E-02 0.010 1.000 1 2017 2017
dbSNP: rs659857
rs659857
MUS81
2 1.000 0.040 11 65862461 synonymous variant T/C snv 0.57 0.52 0.010 1.000 1 2017 2017
dbSNP: rs79824801
rs79824801
PAN2 ; IL23A
2 1.000 0.040 12 56334353 intron variant T/C snv 4.5E-02 0.010 1.000 1 2017 2017
dbSNP: rs2303425
rs2303425
MSH2
8 0.790 0.120 2 47403074 5 prime UTR variant T/C snv 0.10 0.010 < 0.001 1 2018 2018
dbSNP: rs1800795
rs1800795
IL6 ; STEAP1B ; IL6-AS1
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2019 2019
dbSNP: rs2293152
rs2293152
STAT3
10 0.763 0.480 17 42329511 intron variant G/A;C;T snv 2.8E-05; 0.59; 1.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs4796793
rs4796793
STAT3
16 0.716 0.320 17 42390192 upstream gene variant G/C snv 0.67 0.010 1.000 1 2019 2019