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: rs1056892
rs1056892
CBR3 ; CBR3-AS1
6 0.882 0.160 21 36146408 missense variant G/A snv 0.37 0.39 0.010 1.000 1 2018 2018
dbSNP: rs11685068
rs11685068
GLI2
1 1.000 0.120 2 120783436 intron variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1233560
rs1233560
SHH
1 1.000 0.120 7 155800744 3 prime UTR variant G/A snv 0.49 0.010 1.000 1 2010 2010
dbSNP: rs12921862
rs12921862
AXIN1
10 0.763 0.200 16 331927 intron variant C/A snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs17855750
rs17855750
IL27
21 0.695 0.480 16 28503907 missense variant A/C;T snv 6.4E-02; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2018 2018
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2018 2018
dbSNP: rs2278329
rs2278329
OSMR
4 0.851 0.120 5 38921686 missense variant G/A snv 3.3E-02 2.2E-02 0.010 1.000 1 2019 2019
dbSNP: rs2292016
rs2292016
OSMR ; OSMR-AS1
5 0.851 0.120 5 38845758 non coding transcript exon variant G/T snv 1.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs2304277
rs2304277
OGG1 ; CAMK1
8 0.776 0.280 3 9759396 non coding transcript exon variant G/A snv 0.26 0.010 1.000 1 2018 2018
dbSNP: rs3801192
rs3801192
GLI3
1 1.000 0.120 7 42121928 intron variant C/T snv 9.5E-02 0.010 1.000 1 2010 2010
dbSNP: rs3957357
rs3957357
GSTA1
7 0.807 0.280 6 52803889 upstream gene variant A/G snv 0.63 0.010 1.000 1 2013 2013
dbSNP: rs4758680
rs4758680
LRRC43
9 0.763 0.320 12 122170805 intron variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs6463089
rs6463089
GLI3
1 1.000 0.120 7 42113257 intron variant G/A snv 0.11 0.010 1.000 1 2010 2010