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rs143473232

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs143473232(C;C)
Make rs143473232(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position140679789
GeneHARS
is asnp
is mentioned by
dbSNPrs143473232
ebirs143473232
HLIrs143473232
Exacrs143473232
Varsomers143473232
Maprs143473232
PheGenIrs143473232
hapmaprs143473232
1000 genomesrs143473232
hgdprs143473232
ensemblrs143473232
gopubmedrs143473232
geneviewrs143473232
scholarrs143473232
googlers143473232
pharmgkbrs143473232
gwascentralrs143473232
openSNPrs143473232
23andMers143473232
23andMe allrs143473232
SNP Nexus

SNPshotrs143473232
SNPdbers143473232
MSV3drs143473232
GWAS Ctlgrs143473232
Max Magnitude0
ClinVar
Risk rs143473232(A,C;A,C)
Alt rs143473232(A,C;A,C)
Reference rs143473232(G;G)
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.140059374G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000201522.1,