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rs863225123

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863225123(G;G)
Make rs863225123(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position140678013
GeneHARS
is asnp
is mentioned by
dbSNPrs863225123
dbSNP (classic)rs863225123
ClinGenrs863225123
ebirs863225123
HLIrs863225123
Exacrs863225123
Gnomadrs863225123
Varsomers863225123
LitVarrs863225123
Maprs863225123
PheGenIrs863225123
Biobankrs863225123
1000 genomesrs863225123
hgdprs863225123
ensemblrs863225123
geneviewrs863225123
scholarrs863225123
googlers863225123
pharmgkbrs863225123
gwascentralrs863225123
openSNPrs863225123
23andMers863225123
SNPshotrs863225123
SNPdbers863225123
MSV3drs863225123
GWAS Ctlgrs863225123
Max Magnitude0
ClinVar
Risk rs863225123(G;G)
Alt rs863225123(G;G)
Reference Rs863225123(T;T)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene HARS
CLNDBN Charcot-Marie-Tooth disease, axonal, type 2w
Reversed 1
HGVS NC_000005.9:g.140057598A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000201520.1,