rs199422301, TERT

N. diseases: 3
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 0.882 0.120 5 1271156 missense variant G/A snv 7.0E-06 0.700 0
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
CUI: C3151443
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
16 0.882 0.120 5 1271156 missense variant G/A snv 7.0E-06 0.700 0
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4
CUI: C3151444
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4
2 0.882 0.120 5 1271156 missense variant G/A snv 7.0E-06 0.700 0