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rs191391414

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs191391414(C;T)
Make rs191391414(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position140679114
GeneHARS
is asnp
is mentioned by
dbSNPrs191391414
ebirs191391414
HLIrs191391414
Exacrs191391414
Varsomers191391414
Maprs191391414
PheGenIrs191391414
hapmaprs191391414
1000 genomesrs191391414
hgdprs191391414
ensemblrs191391414
gopubmedrs191391414
geneviewrs191391414
scholarrs191391414
googlers191391414
pharmgkbrs191391414
gwascentralrs191391414
openSNPrs191391414
23andMers191391414
23andMe allrs191391414
SNP Nexus

SNPshotrs191391414
SNPdbers191391414
MSV3drs191391414
GWAS Ctlgrs191391414
Max Magnitude0
ClinVar
Risk rs191391414(T;T)
Alt rs191391414(T;T)
Reference rs191391414(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene HARS
CLNDBN Charcot-Marie-Tooth disease, axonal, type 2w
Reversed 0
HGVS NC_000005.9:g.140058699C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033152.4,