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rs80338921

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338921(A;A)
Make rs80338921(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position149038376
GeneSH3TC2
is asnp
is mentioned by
dbSNPrs80338921
ebirs80338921
HLIrs80338921
Exacrs80338921
Varsomers80338921
Maprs80338921
PheGenIrs80338921
hapmaprs80338921
1000 genomesrs80338921
hgdprs80338921
ensemblrs80338921
gopubmedrs80338921
geneviewrs80338921
scholarrs80338921
googlers80338921
pharmgkbrs80338921
gwascentralrs80338921
openSNPrs80338921
23andMers80338921
23andMe allrs80338921
SNP Nexus

SNPshotrs80338921
SNPdbers80338921
MSV3drs80338921
GWAS Ctlgrs80338921
Max Magnitude0
ClinVar
Risk rs80338921(A;A)
Alt rs80338921(A;A)
Reference rs80338921(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.148417939C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020899.1,