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rs387906554

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs387906554(CC;G)
Make rs387906554(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position120953758
GeneC5
is asnp
is mentioned by
dbSNPrs387906554
ebirs387906554
HLIrs387906554
Exacrs387906554
Varsomers387906554
Maprs387906554
PheGenIrs387906554
hapmaprs387906554
1000 genomesrs387906554
hgdprs387906554
ensemblrs387906554
gopubmedrs387906554
geneviewrs387906554
scholarrs387906554
googlers387906554
pharmgkbrs387906554
gwascentralrs387906554
openSNPrs387906554
23andMers387906554
23andMe allrs387906554
SNP Nexus

SNPshotrs387906554
SNPdbers387906554
MSV3drs387906554
GWAS Ctlgrs387906554
Max Magnitude0
ClinVar
Risk rs387906554(G;G)
Alt rs387906554(G;G)
Reference rs387906554(CC;CC)
Significance Pathogenic
Disease Leiner disease
Variation info
Gene C5
CLNDBN Leiner disease
Reversed 1
HGVS NC_000009.11:g.123716036_123716037delGGinsC
CLNSRC OMIM Allelic Variant
CLNACC RCV000018580.27,