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: C1843367
Disease: Poor school performance
Poor school performance 		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: rs1554639173
rs1554639173
NFIB
1.000 9 14120609 frameshift variant TTCGAGTTGAGATG/- delins
CUI: C4748993
Disease: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT 		0.700 0