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rs104894345

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894345(C;C)
Make rs104894345(C;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position119187080
GeneHSPB8
is asnp
is mentioned by
dbSNPrs104894345
ebirs104894345
HLIrs104894345
Exacrs104894345
Varsomers104894345
Maprs104894345
PheGenIrs104894345
hapmaprs104894345
1000 genomesrs104894345
hgdprs104894345
ensemblrs104894345
gopubmedrs104894345
geneviewrs104894345
scholarrs104894345
googlers104894345
pharmgkbrs104894345
gwascentralrs104894345
openSNPrs104894345
23andMers104894345
23andMe allrs104894345
SNP Nexus

SNPshotrs104894345
SNPdbers104894345
MSV3drs104894345
GWAS Ctlgrs104894345
Max Magnitude0
OMIM608014
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894345(C,T;C,T)
Alt rs104894345(C,T;C,T)
Reference rs104894345(G;G)
Significance Pathogenic
Disease Distal hereditary motor neuronopathy type 2A Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease
Variation info
Gene HSPB8
CLNDBN Distal hereditary motor neuronopathy type 2A Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, type 2L
Reversed 0
HGVS NC_000012.11:g.119624885G>C; NC_000012.11:g.119624885G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002735.2, RCV000192251.1, RCV000002737.2, RCV000192250.1,