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rs28939681

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in complete genomics
Make rs28939681(C;T)
Make rs28939681(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position76303843
GeneHSPB1
is asnp
is mentioned by
dbSNPrs28939681
ebirs28939681
HLIrs28939681
Exacrs28939681
Varsomers28939681
Maprs28939681
PheGenIrs28939681
hapmaprs28939681
1000 genomesrs28939681
hgdprs28939681
ensemblrs28939681
gopubmedrs28939681
geneviewrs28939681
scholarrs28939681
googlers28939681
pharmgkbrs28939681
gwascentralrs28939681
openSNPrs28939681
23andMers28939681
23andMe allrs28939681
SNP Nexus

SNPshotrs28939681
SNPdbers28939681
MSV3drs28939681
GWAS Ctlgrs28939681
Max Magnitude0
OMIM602195
DescCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
Variant0005
Relatedalso
Neighborrs28939680
Distance2


ClinVar
Risk rs28939681(T;T)
Alt rs28939681(T;T)
Reference rs28939681(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2F
Variation info
Gene HSPB1
CLNDBN Charcot-Marie-Tooth disease type 2F
Reversed 0
HGVS NC_000007.13:g.75933160C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007910.2,