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: rs1060499750
rs1060499750
SLITRK5
13 87677903 missense variant G/C snv 4.1E-06 7.0E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499751
rs1060499751
SNAPIN
1 153659157 missense variant C/T snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499752
rs1060499752
TTC1 ; PWWP2A
5 160064970 missense variant T/G snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499754
rs1060499754
ULK2
17 19797472 missense variant T/C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499755
rs1060499755
ALDH7A1
5 126577158 missense variant T/C 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: rs1060499761
rs1060499761
GALC
14 87934803 missense variant A/C 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: rs1060499763
rs1060499763
PIGN
1.000 18 62140447 missense variant A/C snv 7.0E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499764
rs1060499764
PLA2G6
22 38120861 missense variant T/C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499765
rs1060499765
PLCB1
20 8737163 missense variant T/A snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499766
rs1060499766
POMT2
14 77306344 missense variant A/C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499769
rs1060499769
SYNE1
6 152354858 missense variant C/T snv 1.2E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499771
rs1060499771
AP4B1 ; AP4B1-AS1
1 113900063 missense variant A/G snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499772
rs1060499772
DARS1
2 135943412 missense variant C/G snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499773
rs1060499773
EPB41L1
20 36209731 missense variant C/T snv 2.0E-05
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499774
rs1060499774
GRIP1
12 66455465 missense variant C/A snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499776
rs1060499776
MTO1
6 73497766 missense variant T/A;G snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499777
rs1060499777
NGLY1
3 25764244 missense variant A/C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499778
rs1060499778
PTCHD1
X 23379781 missense variant A/C snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1060499779
rs1060499779
VPS13B ; VPS13B-DT
8 99013791 start lost G/A snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs138686233
rs138686233
ASTN1
1 176945951 missense variant C/G;T snv 4.2E-04
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs139912214
rs139912214
STIL
1 47281003 missense variant C/G snv 2.2E-03 1.9E-03
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1445957469
rs1445957469
TMEM237
1.000 2 201639047 splice acceptor variant T/C 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