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: 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: rs1064793345
rs1064793345
PTEN
10 0.752 0.240 10 87961039 missense variant T/C snv 0.700 1.000 2 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: rs11587400
rs11587400
PKMP1
1 1.000 0.040 1 114537037 non coding transcript exon variant C/G;T snv 0.800 1.000 1 2014 2014
dbSNP: rs121909323
rs121909323
CACNA1A
8 0.790 0.160 19 13277122 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1346536
rs1346536 		1 1.000 0.040 5 25915543 downstream gene variant A/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1429793
rs1429793
NELL1 ; LOC105376585
1 1.000 0.040 11 20904710 intron variant G/C;T snv 0.700 1.000 1 2013 2013
dbSNP: rs16919315
rs16919315
TMEM132B
1 1.000 0.040 12 125599817 intron variant C/A;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs1718101
rs1718101
CNTNAP2
1 1.000 0.040 7 146425696 intron variant T/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs1879532
rs1879532
ERBB4
1 1.000 0.040 2 211574587 intron variant T/A;C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs1930165
rs1930165
PCDH15 ; LOC105378311
1 1.000 0.040 10 54542170 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs351871
rs351871 		1 1.000 0.040 5 77680214 regulatory region variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs3797817
rs3797817
FER
1 1.000 0.040 5 108948641 intron variant A/C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs3827735
rs3827735
TRIM33
1 1.000 0.040 1 114510087 intron variant C/A;T snv 0.800 1.000 1 2014 2014
dbSNP: rs4307059
rs4307059 		2 0.882 0.080 5 25967594 intron variant T/A;C snv 0.810 1.000 1 2009 2019
dbSNP: rs4675502
rs4675502
PARD3B
1 1.000 0.040 2 205221447 intron variant G/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs4925506
rs4925506 		1 1.000 0.040 1 229676242 intergenic variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs519700
rs519700 		1 1.000 0.040 13 88512065 intron variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs6661053
rs6661053
TRIM33
1 1.000 0.040 1 114496497 intron variant T/A;C snv 0.800 1.000 1 2014 2014
dbSNP: rs6879627
rs6879627
LOC105374618
1 1.000 0.040 5 2109787 intron variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs7380139
rs7380139 		1 1.000 0.040 5 25926257 intergenic variant A/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs7704909
rs7704909 		1 1.000 0.040 5 25898812 intergenic variant T/A;C snv 0.700 1.000 1 2009 2009