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: rs746800707
rs746800707
AAR2
0.851 0.160 20 36240388 missense variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1060499548
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 1 2017 2017
dbSNP: rs1554699491
rs1554699491
AGTPBP1
0.763 0.280 9 85596450 splice acceptor variant C/A snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs780631499
rs780631499
AGTPBP1
0.763 0.280 9 85588465 frameshift variant G/- del 4.0E-06 7.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs863225045
rs863225045
ALDH18A1
0.790 0.360 10 95637327 missense variant C/A;T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1009298200
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1555452127
rs1555452127
ALG1
0.742 0.400 16 5079078 missense variant T/C snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs369160589
rs369160589
ALG1
0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1569508922
rs1569508922
ALG13
0.882 0.160 X 111681268 missense variant T/A snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1560162116
rs1560162116
ALG3
0.882 0.080 3 184242930 missense variant T/C snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1560164682
rs1560164682
ALG3
0.882 0.080 3 184245709 splice region variant T/C snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs794727931
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs201785518
rs201785518
ANKLE2
1.000 12 132729818 stop gained G/A snv 5.6E-05 1.4E-05
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs863225465
rs863225465
ANKLE2
1.000 12 132734559 missense variant G/C snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs587779388
rs587779388
AP4B1 ; AP4B1-AS1
1.000 1 113898755 frameshift variant GT/- delins 1.4E-04 1.5E-04
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 3 2011 2012
dbSNP: rs730882249
rs730882249
AP4M1
0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs375761808
rs375761808
ARID1A
0.925 0.160 1 26775673 missense variant A/G;T snv 4.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs730882201
rs730882201
ARL14EP
1.000 11 30336665 missense variant G/A snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1481539409
rs1481539409
ASNS ; CZ1P-ASNS
1.000 7 97859285 frameshift variant T/- delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs948326794
rs948326794
ASNS ; CZ1P-ASNS
1.000 7 97854653 stop gained C/A;G snv 1.4E-05
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1064795945
rs1064795945
ASPM
1.000 0.120 1 197102332 frameshift variant AAGT/- delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 1.000 2 2002 2009
dbSNP: rs1060499757
rs1060499757
ASPM
1 197101677 frameshift variant CT/- delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1060499758
rs1060499758
ASPM
1 197094079 splice region variant C/T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs199422146
rs199422146
ASPM
1.000 0.120 1 197142522 frameshift variant CT/- delins 7.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs199422173
rs199422173
ASPM
0.827 0.120 1 197101468 frameshift variant CT/- delins 2.3E-04 1.7E-04
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0