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rs28937568

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28937568(C;T)
Make rs28937568(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position76304007
GeneHSPB1
is asnp
is mentioned by
dbSNPrs28937568
ebirs28937568
HLIrs28937568
Exacrs28937568
Varsomers28937568
Maprs28937568
PheGenIrs28937568
hapmaprs28937568
1000 genomesrs28937568
hgdprs28937568
ensemblrs28937568
gopubmedrs28937568
geneviewrs28937568
scholarrs28937568
googlers28937568
pharmgkbrs28937568
gwascentralrs28937568
openSNPrs28937568
23andMers28937568
23andMe allrs28937568
SNP Nexus

SNPshotrs28937568
SNPdbers28937568
MSV3drs28937568
GWAS Ctlgrs28937568
Max Magnitude0
OMIM602195
DescNEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
Variant0003
Relatedalso
Neighborrs28937569
Distance93


ClinVar
Risk rs28937568(G,T;G,T)
Alt rs28937568(G,T;G,T)
Reference rs28937568(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.75933324C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007908.3,