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rs786204003

From SNPedia

Orientationminus
Geno Mag Summary
(GA;GA) 0 common in clinvar
Make rs786204003(AT;AT)
Make rs786204003(AT;GA)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position32810729
GeneYARS
is asnp
is mentioned by
dbSNPrs786204003
ebirs786204003
HLIrs786204003
Exacrs786204003
Varsomers786204003
Maprs786204003
PheGenIrs786204003
hapmaprs786204003
1000 genomesrs786204003
hgdprs786204003
ensemblrs786204003
gopubmedrs786204003
geneviewrs786204003
scholarrs786204003
googlers786204003
pharmgkbrs786204003
gwascentralrs786204003
openSNPrs786204003
23andMers786204003
23andMe allrs786204003
SNP Nexus

SNPshotrs786204003
SNPdbers786204003
MSV3drs786204003
GWAS Ctlgrs786204003
Max Magnitude0
ClinVar
Risk rs786204003(AT;AT)
Alt rs786204003(AT;AT)
Reference rs786204003(GA;GA)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene YARS
CLNDBN Charcot-Marie-Tooth disease, dominant intermediate C
Reversed 1
HGVS NC_000001.10:g.33276330_33276331delTCinsAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000167583.3,