MATN4, matrilin 4, 8785

N. diseases: 14; N. variants: 3
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: rs11086957
rs11086957 		20 45295528 intron variant C/T snv 0.26
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11697677
rs11697677 		20 45296914 intron variant A/G snv 0.27
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs730882210
rs730882210 		0.827 0.280 20 45304356 missense variant C/G snv
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs730882210
rs730882210 		0.827 0.280 20 45304356 missense variant C/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs730882210
rs730882210 		0.827 0.280 20 45304356 missense variant C/G snv
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		Eye Diseases 0.700 0
dbSNP: rs730882210
rs730882210 		0.827 0.280 20 45304356 missense variant C/G snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.700 0
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
dbSNP: rs730882210
rs730882210 		0.827 0.280 20 45304356 missense variant C/G snv
CUI: C0011848
Disease: Diabetes Insipidus
Diabetes Insipidus 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 0