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rs587776986

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587776986(C;C)
Make rs587776986(C;T)
ReferenceGRCh38 38.1/142
Chromosome22
Position50465084
GeneSBF1
is asnp
is mentioned by
dbSNPrs587776986
ebirs587776986
HLIrs587776986
Exacrs587776986
Varsomers587776986
Maprs587776986
PheGenIrs587776986
hapmaprs587776986
1000 genomesrs587776986
hgdprs587776986
ensemblrs587776986
gopubmedrs587776986
geneviewrs587776986
scholarrs587776986
googlers587776986
pharmgkbrs587776986
gwascentralrs587776986
openSNPrs587776986
23andMers587776986
23andMe allrs587776986
SNP Nexus

SNPshotrs587776986
SNPdbers587776986
MSV3drs587776986
GWAS Ctlgrs587776986
Max Magnitude0
ClinVar
Risk rs587776986(C;C)
Alt rs587776986(C;C)
Reference rs587776986(T;T)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene SBF1
CLNDBN Charcot-Marie-Tooth disease, type 4B3
Reversed 0
HGVS NC_000022.10:g.50903513T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000043693.4,