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rs863225022

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225022(G;T)
Make rs863225022(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position76303844
GeneHSPB1
is asnp
is mentioned by
dbSNPrs863225022
dbSNP (classic)rs863225022
ClinGenrs863225022
ebirs863225022
HLIrs863225022
Exacrs863225022
Gnomadrs863225022
Varsomers863225022
LitVarrs863225022
Maprs863225022
PheGenIrs863225022
Biobankrs863225022
1000 genomesrs863225022
hgdprs863225022
ensemblrs863225022
geneviewrs863225022
scholarrs863225022
googlers863225022
pharmgkbrs863225022
gwascentralrs863225022
openSNPrs863225022
23andMers863225022
SNPshotrs863225022
SNPdbers863225022
MSV3drs863225022
GWAS Ctlgrs863225022
Max Magnitude0
ClinVar
Risk rs863225022(T;T)
Alt rs863225022(T;T)
Reference Rs863225022(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2F not provided
Variation info
Gene HSPB1
CLNDBN Charcot-Marie-Tooth disease type 2F not provided
Reversed 0
HGVS NC_000007.13:g.75933161G>T
CLNSRC Quest Diagnostics
CLNACC RCV000201072.1, RCV000236739.1,