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rs3814290

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs3814290(A;A)
Make rs3814290(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position40396401
GenePRX
is asnp
is mentioned by
dbSNPrs3814290
ebirs3814290
HLIrs3814290
Exacrs3814290
Varsomers3814290
Maprs3814290
PheGenIrs3814290
hapmaprs3814290
1000 genomesrs3814290
hgdprs3814290
ensemblrs3814290
gopubmedrs3814290
geneviewrs3814290
scholarrs3814290
googlers3814290
pharmgkbrs3814290
gwascentralrs3814290
openSNPrs3814290
23andMers3814290
23andMe allrs3814290
SNP Nexus

SNPshotrs3814290
SNPdbers3814290
MSV3drs3814290
GWAS Ctlgrs3814290
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs3814290(A;A)
Alt rs3814290(A;A)
Reference rs3814290(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease not provided
Variation info
Gene PRX
CLNDBN Charcot-Marie-Tooth disease, demyelinating, type 4f not provided
Reversed 1
HGVS NC_000019.9:g.40902308C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000032002.3, RCV000059812.1,


[PMID 22847150] Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.