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: rs1555928716
rs1555928716
RPS6KA3
0.925 X 20167669 stop gained G/A snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1557569831
rs1557569831
SZT2
0.925 0.120 1 43431458 splice acceptor variant A/G snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1557739557
rs1557739557
MTOR
1 11114402 missense variant C/T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1557781252
rs1557781252
GATAD2B
0.742 0.320 1 153816414 stop gained G/A snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1562931936
rs1562931936
KMT2E
1.000 7 105107527 stop gained C/T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1563183492
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1564365418
rs1564365418
GRIN1
0.882 0.120 9 137163846 missense variant G/T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1565339091
rs1565339091
HEPACAM ; LOC107984406
1.000 0.200 11 124924796 missense variant T/C snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1567773470
rs1567773470
GFAP
1.000 0.120 17 44911238 missense variant G/C snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs200473652
rs200473652
UNC80
0.807 0.200 2 209819105 missense variant G/C snv 1.4E-03 1.6E-03
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs201943194
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs281875196
rs281875196
SMARCA2
0.851 0.320 9 2115927 missense variant G/A;C snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs397507483
rs397507483
BRAF
0.790 0.400 7 140753348 missense variant C/A;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs398123316
rs398123316
PTEN
0.851 0.160 10 87925530 missense variant A/G;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs587776667
rs587776667
PTEN
0.742 0.280 10 87931090 splice donor variant G/A;C;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs587776935
rs587776935
AKT3
0.827 0.120 1 243505296 missense variant G/A snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs587778779
rs587778779
CYP27A1
0.807 0.240 2 218814379 splice acceptor variant G/A;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs587784177
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs61752717
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs764333096
rs764333096
NFIB
1.000 9 14307286 stop gained G/A;T snv 2.0E-05
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs778139192
rs778139192
TICRR ; KIF7
0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs782609482
rs782609482
SURF1
1.000 0.120 9 133352060 splice donor variant C/A;T snv 4.1E-06
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs786202918
rs786202918
PTEN
0.925 0.080 10 87957951 stop gained C/T snv 4.0E-06
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs786204849
rs786204849
FIBP
0.882 0.200 11 65885181 stop gained G/A snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs786204856
rs786204856
PTEN
0.882 0.120 10 87933043 missense variant C/T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0