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rs587777713

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777713(C;C)
Make rs587777713(C;T)
ReferenceGRCh38 38.1/142
Chromosome6
Position109691485
GeneAK9, FIG4
is asnp
is mentioned by
dbSNPrs587777713
ebirs587777713
HLIrs587777713
Exacrs587777713
Varsomers587777713
Maprs587777713
PheGenIrs587777713
hapmaprs587777713
1000 genomesrs587777713
hgdprs587777713
ensemblrs587777713
gopubmedrs587777713
geneviewrs587777713
scholarrs587777713
googlers587777713
pharmgkbrs587777713
gwascentralrs587777713
openSNPrs587777713
23andMers587777713
23andMe allrs587777713
SNP Nexus

SNPshotrs587777713
SNPdbers587777713
MSV3drs587777713
GWAS Ctlgrs587777713
Max Magnitude0
ClinVar
Risk rs587777713(C;C)
Alt rs587777713(C;C)
Reference rs587777713(T;T)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene AK9 FIG4
CLNDBN Charcot-Marie-Tooth disease, type 4J
Reversed 0
HGVS NC_000006.11:g.110012688T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000144071.4,