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: rs1568269273
rs1568269273
NFIX
0.807 0.320 19 13025433 missense variant G/A snv
CUI: C1854114
Disease: Short nose
Short nose 		0.700 0