Disease: Marles Greenberg Persaud syndrome ×
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: rs281875281
rs281875281 		1.000 0.120 9 14792753 missense variant A/C snv 1.3E-04 1.6E-04
CUI: C1855425
Disease: Marles Greenberg Persaud syndrome
Marles Greenberg Persaud syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.800 1.000 4 2007 2017
dbSNP: rs281875282
rs281875282 		1.000 0.120 9 14740218 missense variant C/G;T snv 4.0E-06
CUI: C1855425
Disease: Marles Greenberg Persaud syndrome
Marles Greenberg Persaud syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 1.000 2 2011 2017
dbSNP: rs1338652795
rs1338652795 		1.000 0.120 9 14863833 missense variant T/C snv 4.0E-06
CUI: C1855425
Disease: Marles Greenberg Persaud syndrome
Marles Greenberg Persaud syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases 0.700 0