MATN4, matrilin 4, 8785

N. diseases: 14; N. variants: 3
Disease: Microcephaly (physical finding) ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs730882210
rs730882210 		0.827 0.280 20 45304356 missense variant C/G snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0