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rs376103979

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs376103979(C;G)
Make rs376103979(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position29708260
GeneC19orf12
is asnp
is mentioned by
dbSNPrs376103979
ebirs376103979
HLIrs376103979
Exacrs376103979
Varsomers376103979
Maprs376103979
PheGenIrs376103979
hapmaprs376103979
1000 genomesrs376103979
hgdprs376103979
ensemblrs376103979
gopubmedrs376103979
geneviewrs376103979
scholarrs376103979
googlers376103979
pharmgkbrs376103979
gwascentralrs376103979
openSNPrs376103979
23andMers376103979
23andMe allrs376103979
SNP Nexus

SNPshotrs376103979
SNPdbers376103979
MSV3drs376103979
GWAS Ctlgrs376103979
Max Magnitude0
ClinVar
Risk rs376103979(G,T;G,T)
Alt rs376103979(G,T;G,T)
Reference rs376103979(C;C)
Significance Pathogenic
Disease Spastic paraplegia 43 Neurodegeneration with brain iron accumulation 4
Variation info
Gene C19orf12
CLNDBN Spastic paraplegia 43, autosomal recessive Neurodegeneration with brain iron accumulation 4
Reversed 0
HGVS NC_000019.9:g.30199167C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000074453.5, RCV000074454.5,