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rs28937569

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28937569(C;T)
Make rs28937569(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position76304100
GeneHSPB1
is asnp
is mentioned by
dbSNPrs28937569
ebirs28937569
HLIrs28937569
Exacrs28937569
Varsomers28937569
Maprs28937569
PheGenIrs28937569
hapmaprs28937569
1000 genomesrs28937569
hgdprs28937569
ensemblrs28937569
gopubmedrs28937569
geneviewrs28937569
scholarrs28937569
googlers28937569
pharmgkbrs28937569
gwascentralrs28937569
openSNPrs28937569
23andMers28937569
23andMe allrs28937569
SNP Nexus

SNPshotrs28937569
SNPdbers28937569
MSV3drs28937569
GWAS Ctlgrs28937569
Max Magnitude0
OMIM602195
DescNEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
Variant0004
Relatedalso
Neighborrs28937568
Distance93


ClinVar
Risk rs28937569(T;T)
Alt rs28937569(T;T)
Reference rs28937569(C;C)
Significance Pathogenic
Disease Distal hereditary motor neuronopathy type 2B
Variation info
Gene HSPB1
CLNDBN Distal hereditary motor neuronopathy type 2B
Reversed 0
HGVS NC_000007.13:g.75933417C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007909.2,