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rs80338919

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GCTGCTCGGAG;GCTGCTCGGAG) 0 common in clinvar
Make rs80338919(CCAGTAA;CCAGTAA)
Make rs80338919(CCAGTAA;GCTGCTCGGAG)
ReferenceGRCh38 38.1/141
Chromosome5
Position149047914
GeneSH3TC2
is asnp
is mentioned by
dbSNPrs80338919
ebirs80338919
HLIrs80338919
Exacrs80338919
Varsomers80338919
Maprs80338919
PheGenIrs80338919
hapmaprs80338919
1000 genomesrs80338919
hgdprs80338919
ensemblrs80338919
gopubmedrs80338919
geneviewrs80338919
scholarrs80338919
googlers80338919
pharmgkbrs80338919
gwascentralrs80338919
openSNPrs80338919
23andMers80338919
23andMe allrs80338919
SNP Nexus

SNPshotrs80338919
SNPdbers80338919
MSV3drs80338919
GWAS Ctlgrs80338919
Max Magnitude0
ClinVar
Risk rs80338919(CCAGTAA;CCAGTAA)
Alt rs80338919(CCAGTAA;CCAGTAA)
Reference rs80338919(GCTGCTCGGAG;GCTGCTCGGAG)
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.148427477_148427487delCTCCGAGCAGCinsTTACTGG
CLNSRC ClinVar GeneReviews
CLNACC RCV000020890.1,