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rs80338928

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338928(-;-)
Make rs80338928(-;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position149027541
GeneSH3TC2
is asnp
is mentioned by
dbSNPrs80338928
ebirs80338928
HLIrs80338928
Exacrs80338928
Varsomers80338928
Maprs80338928
PheGenIrs80338928
hapmaprs80338928
1000 genomesrs80338928
hgdprs80338928
ensemblrs80338928
gopubmedrs80338928
geneviewrs80338928
scholarrs80338928
googlers80338928
pharmgkbrs80338928
gwascentralrs80338928
openSNPrs80338928
23andMers80338928
23andMe allrs80338928
SNP Nexus

SNPshotrs80338928
SNPdbers80338928
MSV3drs80338928
GWAS Ctlgrs80338928
Max Magnitude0
ClinVar
Risk rs80338928(;)
Alt rs80338928(;)
Reference rs80338928(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.148407104delC
CLNSRC ClinVar GeneReviews
CLNACC RCV000020891.1,