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rs29001571

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs29001571(C;T)
Make rs29001571(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position76303816
GeneHSPB1
is asnp
is mentioned by
dbSNPrs29001571
ebirs29001571
HLIrs29001571
Exacrs29001571
Varsomers29001571
Maprs29001571
PheGenIrs29001571
hapmaprs29001571
1000 genomesrs29001571
hgdprs29001571
ensemblrs29001571
gopubmedrs29001571
geneviewrs29001571
scholarrs29001571
googlers29001571
pharmgkbrs29001571
gwascentralrs29001571
openSNPrs29001571
23andMers29001571
23andMe allrs29001571
SNP Nexus

SNPshotrs29001571
SNPdbers29001571
MSV3drs29001571
GWAS Ctlgrs29001571
Max Magnitude0
OMIM602195
DescNEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
Variant0002
Relatedalso
Neighborrs28939680
Distance25


ClinVar
Risk rs29001571(T;T)
Alt rs29001571(T;T)
Reference rs29001571(C;C)
Significance Pathogenic
Disease Distal hereditary motor neuronopathy type 2B Charcot-Marie-Tooth disease type 2F
Variation info
Gene HSPB1
CLNDBN Distal hereditary motor neuronopathy type 2B Charcot-Marie-Tooth disease type 2F
Reversed 0
HGVS NC_000007.13:g.75933133C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007906.2, RCV000007907.3,