rs121918544, TINF2

N. diseases: 7
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.
REVESZ SYNDROME (disorder)
CUI: C1327916
Disease: REVESZ SYNDROME (disorder)
4 0.827 0.200 14 24240635 missense variant C/T snv 0.810 1.000 1 2008 2008
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
CUI: C3151445
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3
7 0.827 0.200 14 24240635 missense variant C/T snv 0.800 1.000 2 2008 2018
Dyskeratosis Congenita
CUI: C0265965
Disease: Dyskeratosis Congenita
146 0.827 0.200 14 24240635 missense variant C/T snv 0.020 1.000 2 2008 2015
Ataxia
CUI: C0004134
Disease: Ataxia
68 0.827 0.200 14 24240635 missense variant C/T snv 0.010 1.000 1 2008 2008
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.827 0.200 14 24240635 missense variant C/T snv 0.010 1.000 1 2008 2008
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
CUI: C1851970
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
1 0.827 0.200 14 24240635 missense variant C/T snv 0.010 1.000 1 2008 2008
Pancytopenia
CUI: C0030312
Disease: Pancytopenia
15 0.827 0.200 14 24240635 missense variant C/T snv 0.010 1.000 1 2008 2008