MMRN1, multimerin 1, 22915

N. diseases: 272; 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: rs3775478
rs3775478 		1.000 0.040 4 89921689 intron variant A/G snv 0.14
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs144453318
rs144453318 		1.000 0.120 4 89953260 missense variant A/G snv
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs773223321
rs773223321 		4 89935190 missense variant G/A snv 1.6E-05
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		Eye Diseases 0.010 1.000 1 2003 2003