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rs80338918

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338918(-;-)
Make rs80338918(-;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position149062995
GeneSH3TC2
is asnp
is mentioned by
dbSNPrs80338918
ebirs80338918
HLIrs80338918
Exacrs80338918
Varsomers80338918
Maprs80338918
PheGenIrs80338918
hapmaprs80338918
1000 genomesrs80338918
hgdprs80338918
ensemblrs80338918
gopubmedrs80338918
geneviewrs80338918
scholarrs80338918
googlers80338918
pharmgkbrs80338918
gwascentralrs80338918
openSNPrs80338918
23andMers80338918
23andMe allrs80338918
SNP Nexus

SNPshotrs80338918
SNPdbers80338918
MSV3drs80338918
GWAS Ctlgrs80338918
Max Magnitude0
ClinVar
Risk rs80338918(;)
Alt rs80338918(;)
Reference rs80338918(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene SH3TC2 MIR584 LOC255187
CLNDBN Charcot-Marie-Tooth disease, type 4C
Reversed 1
HGVS NC_000005.9:g.148442558delC
CLNSRC ClinVar GeneReviews
CLNACC RCV000020895.1,


[PMID 14574644OA-icon.png] Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.