rs376048533, IFIH1

N. diseases: 4
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.
SINGLETON-MERTEN SYNDROME 1
CUI: C4225427
Disease: SINGLETON-MERTEN SYNDROME 1
5 0.851 0.240 2 162272377 missense variant C/T snv 2.8E-05 0.800 1.000 2 2015 2017
AICARDI-GOUTIERES SYNDROME 7
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
15 0.851 0.240 2 162272377 missense variant C/T snv 2.8E-05 0.700 1.000 2 2015 2017
Singleton Merten syndrome
CUI: C0432254
Disease: Singleton Merten syndrome
1 0.851 0.240 2 162272377 missense variant C/T snv 2.8E-05 0.020 1.000 2 2017 2017
Smith-Magenis syndrome
CUI: C0795864
Disease: Smith-Magenis syndrome
8 0.851 0.240 2 162272377 missense variant C/T snv 2.8E-05 0.020 1.000 2 2015 2017