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: rs118203347
rs118203347
1 9 132927208 missense variant T/C snp 0.700 1 2008 2008
dbSNP: rs118203385
rs118203385
1 9 132923383 missense variant A/C,G snp 0.700 1 2008 2008
dbSNP: rs17674580
rs17674580
3 0.923 0.107 18 45729946 5 prime UTR variant C/A,T snp 0.26 0.020 1.000 2 2014 2015
dbSNP: rs8102137
rs8102137
3 0.923 0.107 19 29805946 regulatory region variant T/C snp 0.25 0.020 1.000 2 2010 2014
dbSNP: rs1014971
rs1014971
3 0.923 0.107 22 38936618 intergenic variant C/T snp 0.55 0.010 1.000 1 2010 2010
dbSNP: rs1046428
rs1046428
3 0.923 0.107 14 77327940 missense variant T/A,C snp 4.0E-06; 0.81 0.85 0.010 1.000 1 2011 2011
dbSNP: rs10775480
rs10775480
3 0.923 0.107 18 45737317 intron variant T/C snp 0.61 0.010 1.000 1 2013 2013
dbSNP: rs11077654
rs11077654
3 0.923 0.107 17 73010373 intron variant A/C snp 0.69 0.010 1.000 1 2016 2016
dbSNP: rs11685068
rs11685068
3 0.923 0.107 2 120783436 intron variant C/G,T snp 6.5E-02 0.010 1.000 1 2011 2011
dbSNP: rs11871756
rs11871756
3 0.923 0.107 17 72730105 intron variant C/G snp 0.11 0.010 1.000 1 2016 2016
dbSNP: rs1233560
rs1233560
SHH
3 0.923 0.107 7 155800744 3 prime UTR variant G/A snp 0.50 0.010 1.000 1 2011 2011
dbSNP: rs1547651
rs1547651
3 0.923 0.107 6 43762907 intergenic variant A/T snp 0.15 0.010 1.000 1 2007 2007
dbSNP: rs17863783
rs17863783
3 0.923 0.107 2 233693631 synonymous variant G/T snp 3.8E-02 5.1E-02 0.010 1.000 1 2012 2012
dbSNP: rs197414
rs197414
3 0.923 0.107 1 111766501 missense variant C/A,T snp 0.12; 4.0E-06 0.20 0.010 1.000 1 2008 2008
dbSNP: rs2074647
rs2074647
3 0.923 0.107 14 72562470 missense variant G/A snp 9.0E-02 9.4E-02 0.010 1.000 1 2004 2004
dbSNP: rs2266633
rs2266633
3 0.923 0.107 None NA missense variant snp 0.010 1.000 1 2012 2012
dbSNP: rs2854509
rs2854509
3 0.923 0.107 19 43570445 intron variant T/G snp 0.79 0.010 1.000 1 2015 2015
dbSNP: rs2978974
rs2978974
PSCA ; JRK
3 0.923 0.107 8 142670446 non coding transcript exon variant G/A snp 0.37 0.010 1.000 1 2012 2012
dbSNP: rs3213255
rs3213255
3 0.923 0.107 19 43573355 intron variant G/A snp 0.60 0.010 1.000 1 2015 2015
dbSNP: rs3801192
rs3801192
3 0.923 0.107 7 42121928 intron variant C/T snp 9.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs4969054
rs4969054
3 0.923 0.107 17 73016334 intron variant G/C snp 0.72 0.010 1.000 1 2016 2016
dbSNP: rs535058571
rs535058571
3 0.923 0.107 4 74446545 missense variant G/A snp 0.010 1.000 1 2004 2004
dbSNP: rs6463089
rs6463089
3 0.923 0.107 7 42113257 intron variant G/A snp 0.10 0.010 1.000 1 2011 2011
dbSNP: rs710886
rs710886
3 0.923 0.107 8 127014615 intron variant C/T snp 0.37 0.010 1.000 1 2017 2017
dbSNP: rs715021
rs715021
3 0.923 0.107 2 221196620 intergenic variant C/G snp 0.25 0.010 1.000 1 2010 2010