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: rs796051881
rs796051881
PEX5
9 0.807 0.440 12 7202274 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs1553456695
rs1553456695
NR4A2
1 1.000 0.040 2 156329859 frameshift variant -/C delins 0.700 0
dbSNP: rs730882200
rs730882200
ARFGEF2
3 0.882 0.040 20 48953604 frameshift variant -/C delins 0.700 0
dbSNP: rs886039798
rs886039798
BBS1 ; ZDHHC24
4 0.925 0.120 11 66529902 frameshift variant -/T delins 0.700 0
dbSNP: rs71547482
rs71547482 		1 1.000 0.040 6 103600058 intergenic variant -/TGCAATCT delins 0.11 0.700 1.000 1 2019 2019
dbSNP: rs372292910
rs372292910
PCDHB4
3 1.000 0.040 5 141122905 frameshift variant A/-;AA delins 1.7E-04 0.700 0
dbSNP: rs2717068
rs2717068 		1 1.000 0.040 2 57867738 intergenic variant A/C snv 0.70 0.800 1.000 1 2012 2012
dbSNP: rs7461897
rs7461897 		2 1.000 0.040 8 27037027 intergenic variant A/C snv 0.90 0.700 1.000 1 2015 2015
dbSNP: rs730882222
rs730882222
SLC13A5
3 0.925 0.040 17 6707026 splice donor variant A/C snv 0.700 0
dbSNP: rs12059546
rs12059546
CHRM3
1 0.925 0.040 1 239806797 intron variant A/G snv 0.30 0.800 1.000 1 2012 2012
dbSNP: rs13287547
rs13287547
C9orf92
2 1.000 0.040 9 16286892 intron variant A/G snv 0.32 0.700 1.000 1 2015 2015
dbSNP: rs2292096
rs2292096
CAMSAP2
1 0.925 0.040 1 200857641 3 prime UTR variant A/G snv 0.14 0.810 1.000 1 2012 2013
dbSNP: rs39861
rs39861
MAST4
1 1.000 0.040 5 66856430 intron variant A/G snv 0.25 0.800 1.000 1 2012 2012
dbSNP: rs7495694
rs7495694
LOC107984801
2 1.000 0.040 15 72833651 regulatory region variant A/G snv 0.96 0.700 1.000 1 2015 2015
dbSNP: rs1064797102
rs1064797102
OTUD6B ; OTUD6B-AS1
15 0.827 0.120 8 91071136 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1064797103
rs1064797103
OTUD6B
9 0.827 0.280 8 91078597 missense variant A/G snv 0.700 0
dbSNP: rs587776954
rs587776954
C12orf57 ; RNU7-1
5 0.827 0.320 12 6944122 start lost A/G snv 3.2E-05 2.1E-05 0.700 0
dbSNP: rs730882226
rs730882226
INO80
3 0.925 0.120 15 41071953 missense variant A/G snv 1.6E-05 4.2E-05 0.700 0
dbSNP: rs139427007
rs139427007
LOC105369927 ; LOC105369928
2 1.000 0.040 12 97202325 intergenic variant A/T snv 6.3E-05 0.700 1.000 1 2015 2015
dbSNP: rs6732655
rs6732655
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166038556 intron variant A/T snv 0.74 0.700 1.000 1 2014 2014
dbSNP: rs1562927768
rs1562927768
KMT2E
15 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 0.700 0
dbSNP: rs1558005340
rs1558005340
ATP1A2
4 0.851 0.280 1 160127638 frameshift variant C/- del 0.700 1.000 1 2020 2020
dbSNP: rs141860749
rs141860749
SYT2
2 1.000 0.040 1 202668176 intron variant C/A snv 2.7E-04 0.700 1.000 1 2015 2015
dbSNP: rs6432877
rs6432877
SCN1A ; SCN1A-AS1
1 1.000 0.040 2 166142257 intron variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs374319146
rs374319146
TBCK
6 0.851 0.080 4 106194717 splice donor variant C/A;T snv 4.3E-06; 8.7E-06 0.700 0