rs886039438, TERT

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 0.360 5 1282498 missense variant G/A snv 7.0E-06 0.010 1 2013 2013
HOYERAAL-HREIDARSSON SYNDROME
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
1 0.925 0.360 5 1282498 missense variant G/A snv 7.0E-06 0.010 1.000 1 2013 2013