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: rs1057518992
rs1057518992
NFIA
1.000 0.200 1 61359232 frameshift variant G/- delins
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0