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: rs1344172059
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs141322087
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1057516044
rs1057516044
ABCC9
0.851 0.240 12 21913005 missense variant A/G snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1057518978
rs1057518978
ADNP
1.000 0.160 20 50892395 frameshift variant -/T delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs886039900
rs886039900
AHDC1
0.925 0.320 1 27549887 frameshift variant C/- delins
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: rs886039902
rs886039902
ANKRD11
0.851 0.360 16 89284130 frameshift variant TTTTT/-;T;TTTT delins
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: rs886041065
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins
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: rs1064795760
rs1064795760
BICD2
0.882 0.080 9 92719007 inframe deletion ATT/- del
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs180177035
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 1.000 2 2006 2006
dbSNP: rs121913348
rs121913348
BRAF
0.763 0.480 7 140781617 missense variant C/A;G;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 1.000 1 2008 2008
dbSNP: rs121913355
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
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: rs1554904159
rs1554904159
BRSK2 ; LOC107984298
0.851 0.160 11 1442607 splice donor variant G/A snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 1.000 1 2019 2019
dbSNP: rs113331868
rs113331868
CAMK2A
5 150228191 splice donor variant C/A;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs926027867
rs926027867
CAMK2A
0.882 0.040 5 150251808 missense variant G/A;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs1569518070
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs869312714
rs869312714
CREBBP
0.925 0.120 16 3729810 missense variant C/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: rs1178187217
rs1178187217
DNAH11
0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
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: rs869312702
rs869312702
DNM1 ; CIZ1
0.827 0.160 9 128203609 missense variant G/A snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs730882244
rs730882244
FAM177A1
1.000 14 35077175 frameshift variant -/A delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0