rs78635798, RNASEH2C

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.
AICARDI-GOUTIERES SYNDROME 3
CUI: C1835916
Disease: AICARDI-GOUTIERES SYNDROME 3
7 0.925 0.120 11 65720385 missense variant G/A snv 9.2E-05 1.4E-05 0.800 1.000 5 2006 2018
Neurodevelopmental delay
CUI: C4022738
Disease: Neurodevelopmental delay
24 0.925 0.120 11 65720385 missense variant G/A snv 9.2E-05 1.4E-05 0.700 0
AICARDI-GOUTIERES SYNDROME
CUI: C0393591
Disease: AICARDI-GOUTIERES SYNDROME
12 0.925 0.120 11 65720385 missense variant G/A snv 9.2E-05 1.4E-05 0.030 1.000 3 2009 2018