Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 ×
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: rs201441120
rs201441120 		1.000 16 67657847 missense variant G/T snv 5.2E-05 2.1E-05
CUI: C4225284
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 		0.800 1.000 1 2014 2014
dbSNP: rs797045144
rs797045144 		1.000 16 67659786 inframe deletion TCT/- delins
CUI: C4225284
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 		0.700 1.000 2 2014 2014