Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 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: rs281865547
rs281865547 		0.925 0.120 17 7689284 missense variant C/A snv
CUI: C3151442
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 		0.800 1.000 2 2011 2011
dbSNP: rs281865548
rs281865548 		0.925 0.120 17 7702770 missense variant C/T snv 2.2E-04 1.5E-04
CUI: C3151442
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 		0.800 1.000 2 2011 2011
dbSNP: rs281865549
rs281865549 		0.925 0.120 17 7702514 missense variant C/T snv
CUI: C3151442
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 		0.800 1.000 2 2011 2011
dbSNP: rs281865550
rs281865550 		0.925 0.120 17 7703027 missense variant G/A snv 8.0E-06
CUI: C3151442
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 		0.800 1.000 2 2011 2011