NOP10, NOP10 ribonucleoprotein, 55505

N. diseases: 85; N. variants: 1
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: rs121908092
rs121908092 		0.925 0.120 15 34342063 missense variant G/A snv
CUI: C1857144
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 		0.800 1.000 2 2007 2011
dbSNP: rs121908092
rs121908092 		0.925 0.120 15 34342063 missense variant G/A snv
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases 0.700 0