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rs587776688

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587776688(-;-)
Make rs587776688(-;AA)
Make rs587776688(AA;AA)
ReferenceGRCh38 38.1/142
Chromosome16
Position75636506
GeneKARS
is asnp
is mentioned by
dbSNPrs587776688
ebirs587776688
HLIrs587776688
Exacrs587776688
Varsomers587776688
Maprs587776688
PheGenIrs587776688
hapmaprs587776688
1000 genomesrs587776688
hgdprs587776688
ensemblrs587776688
gopubmedrs587776688
geneviewrs587776688
scholarrs587776688
googlers587776688
pharmgkbrs587776688
gwascentralrs587776688
openSNPrs587776688
23andMers587776688
23andMe allrs587776688
SNP Nexus

SNPshotrs587776688
SNPdbers587776688
MSV3drs587776688
GWAS Ctlgrs587776688
Max Magnitude0
ClinVar
Risk rs587776688(AA;AA)
Alt rs587776688(AA;AA)
Reference rs587776688(;)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene KARS
CLNDBN Charcot-Marie-Tooth disease, recessive intermediate B
Reversed 0
HGVS NC_000016.9:g.75670403_75670404dupAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000008648.6,