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rs80338927

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80338927(C;C)
Make rs80338927(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position149027750
GeneSH3TC2
is asnp
is mentioned by
dbSNPrs80338927
ebirs80338927
HLIrs80338927
Exacrs80338927
Varsomers80338927
Maprs80338927
PheGenIrs80338927
hapmaprs80338927
1000 genomesrs80338927
hgdprs80338927
ensemblrs80338927
gopubmedrs80338927
geneviewrs80338927
scholarrs80338927
googlers80338927
pharmgkbrs80338927
gwascentralrs80338927
openSNPrs80338927
23andMers80338927
23andMe allrs80338927
SNP Nexus

SNPshotrs80338927
SNPdbers80338927
MSV3drs80338927
GWAS Ctlgrs80338927
Max Magnitude0
ClinVar
Risk rs80338927(C;C)
Alt rs80338927(C;C)
Reference rs80338927(T;T)
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.148407313A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020889.1,