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rs786200893

From SNPedia

Orientationminus
Geno Mag Summary
(TAAAGCAGGTGG;TAAAGCAGGTGG) 0 common in clinvar
Make rs786200893(-;-)
Make rs786200893(-;TAAAGCAGGTGG)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position32806523
GeneYARS
is asnp
is mentioned by
dbSNPrs786200893
ebirs786200893
HLIrs786200893
Exacrs786200893
Varsomers786200893
Maprs786200893
PheGenIrs786200893
hapmaprs786200893
1000 genomesrs786200893
hgdprs786200893
ensemblrs786200893
gopubmedrs786200893
geneviewrs786200893
scholarrs786200893
googlers786200893
pharmgkbrs786200893
gwascentralrs786200893
openSNPrs786200893
23andMers786200893
23andMe allrs786200893
SNP Nexus

SNPshotrs786200893
SNPdbers786200893
MSV3drs786200893
GWAS Ctlgrs786200893
Max Magnitude0
ClinVar
Risk rs786200893(;)
Alt rs786200893(;)
Reference rs786200893(TAAAGCAGGTGG;TAAAGCAGGTGG)
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.33272124_33272135delCCACCTGCTTTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000006567.3,