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rs796052122

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs796052122(C;C)
Make rs796052122(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position42543214
GeneNAGLU
is asnp
is mentioned by
dbSNPrs796052122
ebirs796052122
HLIrs796052122
Exacrs796052122
Varsomers796052122
Maprs796052122
PheGenIrs796052122
hapmaprs796052122
1000 genomesrs796052122
hgdprs796052122
ensemblrs796052122
gopubmedrs796052122
geneviewrs796052122
scholarrs796052122
googlers796052122
pharmgkbrs796052122
gwascentralrs796052122
openSNPrs796052122
23andMers796052122
23andMe allrs796052122
SNP Nexus

SNPshotrs796052122
SNPdbers796052122
MSV3drs796052122
GWAS Ctlgrs796052122
Max Magnitude0
ClinVar
Risk rs796052122(C;C)
Alt rs796052122(C;C)
Reference rs796052122(T;T)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene NAGLU
CLNDBN Charcot-Marie-Tooth disease, axonal type 2V
Reversed 0
HGVS NC_000017.10:g.40695232T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000186582.5,