rs199422263, TERC

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Dyskeratosis Congenita
CUI: C0265965
Disease: Dyskeratosis Congenita
146 0.925 0.120 3 169765004 non coding transcript exon variant TTAG/- delins 0.700 0
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
CUI: C4551974
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
7 0.925 0.120 3 169765004 non coding transcript exon variant TTAG/- delins 0.700 0