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rs267607194

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267607194(A;A)
Make rs267607194(A;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position75640258
GeneKARS
is asnp
is mentioned by
dbSNPrs267607194
ebirs267607194
HLIrs267607194
Exacrs267607194
Varsomers267607194
Maprs267607194
PheGenIrs267607194
hapmaprs267607194
1000 genomesrs267607194
hgdprs267607194
ensemblrs267607194
gopubmedrs267607194
geneviewrs267607194
scholarrs267607194
googlers267607194
pharmgkbrs267607194
gwascentralrs267607194
openSNPrs267607194
23andMers267607194
23andMe allrs267607194
SNP Nexus

SNPshotrs267607194
SNPdbers267607194
MSV3drs267607194
GWAS Ctlgrs267607194
Max Magnitude0
ClinVar
Risk rs267607194(A;A)
Alt rs267607194(A;A)
Reference rs267607194(T;T)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene KARS
CLNDBN Charcot-Marie-Tooth disease, recessive intermediate B
Reversed 1
HGVS NC_000016.9:g.75674156A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008647.7,