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rs376048533

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs376048533(C;T)
Make rs376048533(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position162272377
GeneIFIH1
is asnp
is mentioned by
dbSNPrs376048533
ebirs376048533
HLIrs376048533
Exacrs376048533
Varsomers376048533
Maprs376048533
PheGenIrs376048533
hapmaprs376048533
1000 genomesrs376048533
hgdprs376048533
ensemblrs376048533
gopubmedrs376048533
geneviewrs376048533
scholarrs376048533
googlers376048533
pharmgkbrs376048533
gwascentralrs376048533
openSNPrs376048533
23andMers376048533
23andMe allrs376048533
SNP Nexus

SNPshotrs376048533
SNPdbers376048533
MSV3drs376048533
GWAS Ctlgrs376048533
Max Magnitude0
ClinVar
Risk rs376048533(T;T)
Alt rs376048533(T;T)
Reference rs376048533(C;C)
Significance Pathogenic
Disease Singleton-Merten syndrome 1
Variation info
Gene IFIH1
CLNDBN Singleton-Merten syndrome 1
Reversed 0
HGVS NC_000002.11:g.163128887C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000169754.3,