rs1452451283, RNASEH2B

N. diseases: 1
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 1.000 0.120 13 50927462 frameshift variant G/- delins 0.700 0