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: rs80358243
rs80358243
MLC1
0.925 0.200 22 50083183 intron variant A/G;T snv 8.0E-06
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1057518644
rs1057518644
HGSNAT
0.925 0.120 8 43192413 stop gained C/T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1060499626
rs1060499626
ZMYND11
0.882 0.160 10 180034 stop gained C/T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308039
rs1085308039
PTEN
0.925 0.080 10 87933075 stop gained G/T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308048
rs1085308048
PTEN
0.851 0.320 10 87933175 stop gained T/G snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1085308049
rs1085308049
PTEN
0.925 0.080 10 87957885 stop gained A/T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs121909219
rs121909219
PTEN
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs121909224
rs121909224
PTEN
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs121909231
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1232880706
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1554709792
rs1554709792
NFIB
1.000 9 14307442 stop gained G/A snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
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: 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: 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: 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: 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: rs786204875
rs786204875
PTEN
0.882 0.120 10 87960913 stop gained G/A;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs869312697
rs869312697
ARID1B
0.882 0.400 6 157207241 stop gained C/T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs878853164
rs878853164
KMT5B
1.000 0.160 11 68157849 stop gained C/A snv 4.0E-06
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs121918470
rs121918470
PTPN11
0.790 0.160 12 112489105 missense variant A/C;G snv 4.0E-06
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 1.000 4 2004 2006
dbSNP: rs1064793345
rs1064793345
PTEN
0.752 0.240 10 87961039 missense variant T/C snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 1.000 2 2012 2012