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: 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: 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: rs1352010373
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv
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: rs146838322
rs146838322
TRIT1
1 39854058 missense variant A/G snv 1.2E-05
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1553544133
rs1553544133
SATB2
0.851 0.200 2 199308845 frameshift variant TC/- delins
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: rs1554317931
rs1554317931
GLI3
0.851 0.080 7 42045460 frameshift variant G/- delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1554639173
rs1554639173
NFIB
1.000 9 14120609 frameshift variant TTCGAGTTGAGATG/- delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1554649366
rs1554649366
NFIB
1.000 9 14150191 frameshift variant -/CA delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1554709654
rs1554709654
NFIB
1.000 9 14307156 missense variant A/G snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1554709662
rs1554709662
NFIB
1.000 9 14307175 missense variant T/C snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1554709683
rs1554709683
NFIB
1.000 9 14307210 missense variant T/G 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: rs1554776954
rs1554776954
STXBP1
1.000 9 127661133 frameshift variant A/- delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1554893835
rs1554893835
PTEN
0.827 0.240 10 87894110 splice donor variant G/C;T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1555483699
rs1555483699
GRIN2A
0.851 0.120 16 9768994 missense variant C/T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1555619420
rs1555619420
NF1
1.000 0.040 17 31265331 frameshift variant -/G delins
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: 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: rs1562927768
rs1562927768
KMT2E
0.790 0.080 7 105101476 frameshift variant AAAGA/- delins
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