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rs80338922

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338922(A;A)
Make rs80338922(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position149028555
GeneSH3TC2
is asnp
is mentioned by
dbSNPrs80338922
ebirs80338922
HLIrs80338922
Exacrs80338922
Varsomers80338922
Maprs80338922
PheGenIrs80338922
hapmaprs80338922
1000 genomesrs80338922
hgdprs80338922
ensemblrs80338922
gopubmedrs80338922
geneviewrs80338922
scholarrs80338922
googlers80338922
pharmgkbrs80338922
gwascentralrs80338922
openSNPrs80338922
23andMers80338922
23andMe allrs80338922
SNP Nexus

SNPshotrs80338922
SNPdbers80338922
MSV3drs80338922
GWAS Ctlgrs80338922
Max Magnitude0
ClinVar
Risk rs80338922(A;A)
Alt rs80338922(A;A)
Reference rs80338922(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.148408118C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020886.2,