rs74555752, RNASEH2B

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.
Aicardi-Goutieres Syndrome 2
CUI: C3489724
Disease: Aicardi-Goutieres Syndrome 2
19 0.925 0.120 13 50945470 missense variant T/G snv 0.800 1.000 4 2006 2011
AICARDI-GOUTIERES SYNDROME
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
12 0.925 0.120 13 50945470 missense variant T/G snv 0.010 1.000 1 2017 2017