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rs587781250

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587781250(G;T)
Make rs587781250(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position76303817
GeneHSPB1
is asnp
is mentioned by
dbSNPrs587781250
ebirs587781250
HLIrs587781250
Exacrs587781250
Varsomers587781250
Maprs587781250
PheGenIrs587781250
hapmaprs587781250
1000 genomesrs587781250
hgdprs587781250
ensemblrs587781250
gopubmedrs587781250
geneviewrs587781250
scholarrs587781250
googlers587781250
pharmgkbrs587781250
gwascentralrs587781250
openSNPrs587781250
23andMers587781250
23andMe allrs587781250
SNP Nexus

SNPshotrs587781250
SNPdbers587781250
MSV3drs587781250
GWAS Ctlgrs587781250
Max Magnitude0
ClinVar
Risk rs587781250(T;T)
Alt rs587781250(T;T)
Reference rs587781250(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene HSPB1
CLNDBN Charcot-Marie-Tooth disease
Reversed 0
HGVS NC_000007.13:g.75933134G>T
CLNSRC
CLNACC RCV000144874.1,