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: rs1553281318
rs1553281318
COQ8A
7 0.882 0.120 1 226986536 frameshift variant -/A delins 0.700 0
dbSNP: rs730882209
rs730882209
SETX
6 0.925 0.080 9 132326375 frameshift variant -/C delins 0.700 0
dbSNP: rs776969714
rs776969714
SEPSECS
34 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
dbSNP: rs1554558365
rs1554558365
TMEM67
4 0.925 0.120 8 93804851 inframe insertion -/TATGAA delins 0.700 0
dbSNP: rs1558811557
rs1558811557
CNGA3
5 0.851 0.120 2 98377710 frameshift variant -/TCAGTGCTGCAGCCGGGGATCG delins 0.700 0
dbSNP: rs886039809
rs886039809
KIAA0586
11 0.807 0.480 14 58498824 frameshift variant A/- del 0.700 0
dbSNP: rs1064795104
rs1064795104
EXOC6B
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
dbSNP: rs137853105
rs137853105
MKS1
4 0.882 0.160 17 58206479 missense variant A/C snv 5.6E-05 2.8E-05 0.700 0
dbSNP: rs752746786
rs752746786
GNB1
30 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1384483492
rs1384483492
PRPH ; LOC101927267
2 0.925 0.120 12 49295697 missense variant A/G snv 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs869312824
rs869312824
GNB1
14 0.827 0.200 1 1804565 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057518963
rs1057518963
OPHN1
6 0.851 0.200 X 68210239 missense variant A/G snv 0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
dbSNP: rs138504221
rs138504221
SGSH
9 0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04 0.700 0
dbSNP: rs28940881
rs28940881
TYR ; LOC107984363
16 0.776 0.200 11 89177954 start lost A/G snv 6.4E-05 5.6E-05 0.700 0
dbSNP: rs765919785
rs765919785
COL18A1 ; MIR6815
4 0.882 0.080 21 45477409 splice acceptor variant A/G snv 8.2E-06 2.8E-05 0.700 0
dbSNP: rs886039807
rs886039807
TMEM231
11 0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 0.700 0
dbSNP: rs142248415
rs142248415
MANBA
1 1.000 0.080 4 102634957 missense variant A/G;T snv 4.0E-06; 2.1E-03 7.5E-04 0.010 1.000 1 2015 2015
dbSNP: rs1555350397
rs1555350397
OTX2
9 0.827 0.200 14 56804268 frameshift variant ACA/CC delins 0.700 0
dbSNP: rs775796581
rs775796581
CNGB3
5 0.851 0.120 8 86666951 frameshift variant AGTCTGGG/- delins 5.2E-05 7.0E-05 0.700 0
dbSNP: rs1554768245
rs1554768245
SYNE1
16 0.807 0.160 6 152472395 frameshift variant C/- delins 0.700 0
dbSNP: rs886039799
rs886039799
BBS9
17 0.763 0.320 7 33273896 frameshift variant C/- del 0.700 0
dbSNP: rs267606826
rs267606826
FOXG1
38 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
dbSNP: rs387907144
rs387907144
ARID1B
34 0.716 0.600 6 157181056 stop gained C/A;T snv 0.700 1.000 2 2012 2015
dbSNP: rs746681765
rs746681765
SLC25A46
3 0.882 0.080 5 110761543 missense variant C/A;T snv 2.8E-05 0.010 1.000 1 2017 2017