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rs587777783

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CACTC;CACTC) 0 common in clinvar
Make rs587777783(-;-)
Make rs587777783(-;CACTC)
ReferenceGRCh38 38.1/142
Chromosome12
Position120440444
GeneCOX6A1
is asnp
is mentioned by
dbSNPrs587777783
ebirs587777783
HLIrs587777783
Exacrs587777783
Varsomers587777783
Maprs587777783
PheGenIrs587777783
hapmaprs587777783
1000 genomesrs587777783
hgdprs587777783
ensemblrs587777783
gopubmedrs587777783
geneviewrs587777783
scholarrs587777783
googlers587777783
pharmgkbrs587777783
gwascentralrs587777783
openSNPrs587777783
23andMers587777783
23andMe allrs587777783
SNP Nexus

SNPshotrs587777783
SNPdbers587777783
MSV3drs587777783
GWAS Ctlgrs587777783
Max Magnitude0
ClinVar
Risk rs587777783(;)
Alt rs587777783(;)
Reference rs587777783(CACTC;CACTC)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene COX6A1
CLNDBN Charcot-Marie-Tooth disease, recessive intermediate d
Reversed 0
HGVS NC_000012.11:g.120878247_120878251delCACTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000144453.3,