NHP2, NHP2 ribonucleoprotein, 55651

N. diseases: 91; N. variants: 3
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 ×
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: rs121908089
rs121908089 		0.925 0.120 5 178149760 missense variant A/G snv
CUI: C3151441
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 		0.800 1.000 1 2008 2008
dbSNP: rs121908090
rs121908090 		0.925 0.120 5 178149799 missense variant C/T snv
CUI: C3151441
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 		0.800 1.000 1 2008 2008
dbSNP: rs121908091
rs121908091 		0.925 0.120 5 178149715 stop lost A/T snv
CUI: C3151441
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 		0.700 0