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rs28939680

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in complete genomics
Make rs28939680(C;T)
Make rs28939680(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position76303841
GeneHSPB1
is asnp
is mentioned by
dbSNPrs28939680
ebirs28939680
HLIrs28939680
Exacrs28939680
Varsomers28939680
Maprs28939680
PheGenIrs28939680
hapmaprs28939680
1000 genomesrs28939680
hgdprs28939680
ensemblrs28939680
gopubmedrs28939680
geneviewrs28939680
scholarrs28939680
googlers28939680
pharmgkbrs28939680
gwascentralrs28939680
openSNPrs28939680
23andMers28939680
23andMe allrs28939680
SNP Nexus

SNPshotrs28939680
SNPdbers28939680
MSV3drs28939680
GWAS Ctlgrs28939680
Max Magnitude0
OMIM602195
DescCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
Variant0001
Relatedalso
Neighborrs28939681
Distance2
Neighborrs29001571
Distance25


ClinVar
Risk rs28939680(T;T)
Alt rs28939680(T;T)
Reference rs28939680(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2F Distal hereditary motor neuronopathy type 2B
Variation info
Gene HSPB1
CLNDBN Charcot-Marie-Tooth disease type 2F Distal hereditary motor neuronopathy type 2B
Reversed 0
HGVS NC_000007.13:g.75933158C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007904.3, RCV000007905.3,