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rs80338935

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338935(C;C)
Make rs80338935(C;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position149010271
GeneSH3TC2
is asnp
is mentioned by
dbSNPrs80338935
ebirs80338935
HLIrs80338935
Exacrs80338935
Varsomers80338935
Maprs80338935
PheGenIrs80338935
hapmaprs80338935
1000 genomesrs80338935
hgdprs80338935
ensemblrs80338935
gopubmedrs80338935
geneviewrs80338935
scholarrs80338935
googlers80338935
pharmgkbrs80338935
gwascentralrs80338935
openSNPrs80338935
23andMers80338935
23andMe allrs80338935
SNP Nexus

SNPshotrs80338935
SNPdbers80338935
MSV3drs80338935
GWAS Ctlgrs80338935
Max Magnitude0
ClinVar
Risk rs80338935(C;C)
Alt rs80338935(C;C)
Reference rs80338935(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene SH3TC2
CLNDBN Charcot-Marie-Tooth disease, type 4C
Reversed 1
HGVS NC_000005.9:g.148389834C>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020896.1,