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rs80359890

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs80359890(C;C)
Make rs80359890(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position149042718
GeneSH3TC2
is asnp
is mentioned by
dbSNPrs80359890
ebirs80359890
HLIrs80359890
Exacrs80359890
Varsomers80359890
Maprs80359890
PheGenIrs80359890
hapmaprs80359890
1000 genomesrs80359890
hgdprs80359890
ensemblrs80359890
gopubmedrs80359890
geneviewrs80359890
scholarrs80359890
googlers80359890
pharmgkbrs80359890
gwascentralrs80359890
openSNPrs80359890
23andMers80359890
23andMe allrs80359890
SNP Nexus

SNPshotrs80359890
SNPdbers80359890
MSV3drs80359890
GWAS Ctlgrs80359890
Max Magnitude0
ClinVar
Risk rs80359890(G;G)
Alt rs80359890(G;G)
Reference rs80359890(A;A)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease Mononeuropathy of the median nerve Charcot-Marie-Tooth disease not specified
Variation info
Gene SH3TC2
CLNDBN Charcot-Marie-Tooth disease, type 4C Mononeuropathy of the median nerve, mild Charcot-Marie-Tooth disease, type IV not specified
Reversed 0
HGVS NC_000005.9:g.148422281A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002590.3, RCV000002591.3, RCV000199719.3, RCV000236208.1,