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rs387906792

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906792(A;T)
Make rs387906792(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position70277088
GeneAARS
is asnp
is mentioned by
dbSNPrs387906792
ebirs387906792
HLIrs387906792
Exacrs387906792
Varsomers387906792
Maprs387906792
PheGenIrs387906792
hapmaprs387906792
1000 genomesrs387906792
hgdprs387906792
ensemblrs387906792
gopubmedrs387906792
geneviewrs387906792
scholarrs387906792
googlers387906792
pharmgkbrs387906792
gwascentralrs387906792
openSNPrs387906792
23andMers387906792
23andMe allrs387906792
SNP Nexus

SNPshotrs387906792
SNPdbers387906792
MSV3drs387906792
GWAS Ctlgrs387906792
Max Magnitude0
ClinVar
Risk rs387906792(T;T)
Alt rs387906792(T;T)
Reference rs387906792(A;A)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene AARS
CLNDBN Charcot-Marie-Tooth disease, type 2N
Reversed 1
HGVS NC_000016.9:g.70310991T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023068.3,