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: 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: 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