Source: CURATED ×
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: rs1566446604
rs1566446604
CHD8
6 0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins 0.700 1.000 4 2012 2016
dbSNP: rs1064794254
rs1064794254
UPF3B
6 0.851 0.120 X 119841185 frameshift variant CT/- delins 0.700 1.000 3 2007 2012
dbSNP: rs113994098
rs113994098
POLG
10 0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 0.700 1.000 3 2002 2011
dbSNP: rs1555144459
rs1555144459
PKP2
3 0.925 0.120 12 32841038 frameshift variant -/A delins 0.700 1.000 3 2004 2012
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
7 0.807 0.280 15 89326678 frameshift variant A/- delins 0.700 1.000 3 2010 2017
dbSNP: rs34002892
rs34002892
GNPTAB
8 0.851 0.200 12 101753470 frameshift variant GA/- delins 5.1E-04 3.5E-04 0.700 1.000 3 2006 2014
dbSNP: rs1064793345
rs1064793345
PTEN
10 0.752 0.240 10 87961039 missense variant T/C snv 0.700 1.000 2 2012 2012
dbSNP: rs10038113
rs10038113 		1 1.000 0.040 5 25902233 intergenic variant T/C snv 0.45 0.700 1.000 1 2009 2009
dbSNP: rs10058083
rs10058083 		1 1.000 0.040 5 25894289 intergenic variant G/A snv 0.38 0.700 1.000 1 2009 2009
dbSNP: rs10185592
rs10185592
LOC105373847
1 1.000 0.040 2 205829457 intergenic variant A/C snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs10205350
rs10205350
GALNT14
1 1.000 0.040 2 30923631 intron variant G/T snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs10239799
rs10239799 		1 1.000 0.040 7 120765281 intergenic variant C/T snv 0.37 0.700 1.000 1 2013 2013
dbSNP: rs10749886
rs10749886 		1 1.000 0.040 11 107129809 intergenic variant G/A snv 0.35 0.700 1.000 1 2012 2012
dbSNP: rs10858047
rs10858047 		1 1.000 0.040 1 114531255 upstream gene variant T/C snv 0.13 0.700 1.000 1 2014 2014
dbSNP: rs10904487
rs10904487 		1 1.000 0.040 10 5382502 intergenic variant C/T snv 0.64 0.700 1.000 1 2012 2012
dbSNP: rs10942147
rs10942147
MSNP1
1 1.000 0.040 5 25910820 non coding transcript exon variant G/A snv 0.27 0.700 1.000 1 2009 2009
dbSNP: rs11118968
rs11118968
RASSF5
1 1.000 0.040 1 206524916 intron variant G/A snv 7.5E-02 0.700 1.000 1 2012 2012
dbSNP: rs11211996
rs11211996
GUCY1A2
1 1.000 0.040 11 106987949 intron variant T/C snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs1135402760
rs1135402760
BRSK2
6 0.851 0.160 11 1451405 frameshift variant AG/- delins 0.700 1.000 1 2019 2019
dbSNP: rs11739167
rs11739167
MSNP1
1 1.000 0.040 5 25909655 non coding transcript exon variant C/T snv 0.48 0.700 1.000 1 2009 2009
dbSNP: rs11899372
rs11899372 		1 1.000 0.040 2 127016304 upstream gene variant G/T snv 6.1E-02 0.700 1.000 1 2013 2013
dbSNP: rs121909323
rs121909323
CACNA1A
8 0.790 0.160 19 13277122 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs12194182
rs12194182
SLC22A3
1 1.000 0.040 6 160413483 intron variant T/C snv 0.21 0.700 1.000 1 2012 2012
dbSNP: rs12331851
rs12331851
ZNF827
1 1.000 0.040 4 145928143 intron variant G/A snv 7.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs12518194
rs12518194 		1 1.000 0.040 5 25951452 intergenic variant A/G snv 0.27 0.700 1.000 1 2009 2009