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rs863225122

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863225122(A;A)
Make rs863225122(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position140679123
GeneHARS
is asnp
is mentioned by
dbSNPrs863225122
ebirs863225122
HLIrs863225122
Exacrs863225122
Varsomers863225122
Maprs863225122
PheGenIrs863225122
hapmaprs863225122
1000 genomesrs863225122
hgdprs863225122
ensemblrs863225122
gopubmedrs863225122
geneviewrs863225122
scholarrs863225122
googlers863225122
pharmgkbrs863225122
gwascentralrs863225122
openSNPrs863225122
23andMers863225122
23andMe allrs863225122
SNP Nexus

SNPshotrs863225122
SNPdbers863225122
MSV3drs863225122
GWAS Ctlgrs863225122
Max Magnitude0
ClinVar
Risk rs863225122(A;A)
Alt rs863225122(A;A)
Reference rs863225122(C;C)
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.140058708G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000201516.1,