Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11300320
rs11300320
GALC
14 87950752 intron variant AA/-;A;AAA delins 0.96
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs201257588
rs201257588
TBC1D24
0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 1.000 2 2014 2014
dbSNP: rs886037931
rs886037931
PYCR2
1.000 1 225921209 stop gained G/A snv 8.0E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 1.000 1 2017 2017
dbSNP: rs1060499735
rs1060499735
CPLX1 ; LOC105374339
1.000 4 786584 stop gained C/A snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499736
rs1060499736
SMARCA1
X 129523364 stop gained G/A snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499756
rs1060499756
AP4B1 ; AP4B1-AS1
1 113897860 stop gained C/A snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499762
rs1060499762
LARP7 ; MIR367 ; MIR302CHG
4 112647384 stop gained A/T snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1465414886
rs1465414886
CEP290
1.000 0.200 12 88118660 stop gained G/A;C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1482303814
rs1482303814
CPLANE1
1.000 5 37125344 stop gained C/T snv 7.0E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1557714302
rs1557714302
PPT1
0.925 0.120 1 40092486 stop gained A/C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1562374476
rs1562374476
SNX14
1.000 6 85572333 stop gained A/T snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1567800920
rs1567800920
RPGRIP1L
1.000 0.280 16 53619047 stop gained C/T snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs200618384
rs200618384
PRUNE1
1.000 1 151024795 stop gained G/C;T snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs267606826
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs548986682
rs548986682
ZNF423
16 49635782 stop gained C/A;T snv 3.2E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs561598805
rs561598805
CEP290
1.000 0.200 12 88071860 stop gained G/A;T snv 2.1E-05; 5.5E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs752059006
rs752059006
SACS
1.000 0.160 13 23353788 stop gained G/A;C snv 1.6E-05; 1.2E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs764666741
rs764666741
AGBL2
11 47685934 stop gained G/A snv 1.6E-05 1.4E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs772050241
rs772050241
ASPM
1.000 0.120 1 197104402 stop gained G/A snv 2.0E-05 1.4E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs886040995
rs886040995
CHD7
1.000 0.080 8 60852682 stop gained C/T snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs972221242
rs972221242
TMEM237
1.000 2 201632186 stop gained G/A snv 4.0E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs398122965
rs398122965
TBC1D24
0.807 0.280 16 2496872 missense variant C/T snv 1.2E-05 2.8E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 1.000 2 2014 2014
dbSNP: rs398122966
rs398122966
TBC1D24
0.882 0.280 16 2496266 missense variant C/T snv 8.0E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 1.000 2 2014 2014
dbSNP: rs672601372
rs672601372
RARS1
0.925 0.120 5 168486503 missense variant A/C;G;T snv 4.2E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 1.000 2 2014 2017
dbSNP: rs747821285
rs747821285
TBC1D24
0.882 0.280 16 2496476 missense variant G/A snv 4.1E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 1.000 2 2014 2014