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rs80338930

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80338930(A;T)
Make rs80338930(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position149027090
GeneSH3TC2
is asnp
is mentioned by
dbSNPrs80338930
ebirs80338930
HLIrs80338930
Exacrs80338930
Varsomers80338930
Maprs80338930
PheGenIrs80338930
hapmaprs80338930
1000 genomesrs80338930
hgdprs80338930
ensemblrs80338930
gopubmedrs80338930
geneviewrs80338930
scholarrs80338930
googlers80338930
pharmgkbrs80338930
gwascentralrs80338930
openSNPrs80338930
23andMers80338930
23andMe allrs80338930
SNP Nexus

SNPshotrs80338930
SNPdbers80338930
MSV3drs80338930
GWAS Ctlgrs80338930
Max Magnitude0
ClinVar
Risk rs80338930(G,T;G,T)
Alt rs80338930(G,T;G,T)
Reference rs80338930(A;A)
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.148406653T>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020893.1,