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rs587781253

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587781253(A;A)
Make rs587781253(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position101985925
GeneDYNC1H1
is asnp
is mentioned by
dbSNPrs587781253
dbSNP (classic)rs587781253
ClinGenrs587781253
ebirs587781253
HLIrs587781253
Exacrs587781253
Gnomadrs587781253
Varsomers587781253
LitVarrs587781253
Maprs587781253
PheGenIrs587781253
Biobankrs587781253
1000 genomesrs587781253
hgdprs587781253
ensemblrs587781253
geneviewrs587781253
scholarrs587781253
googlers587781253
pharmgkbrs587781253
gwascentralrs587781253
openSNPrs587781253
23andMers587781253
SNPshotrs587781253
SNPdbers587781253
MSV3drs587781253
GWAS Ctlgrs587781253
Max Magnitude0
ClinVar
Risk rs587781253(A;A)
Alt rs587781253(A;A)
Reference Rs587781253(G;G)
Significance Probable-Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene DYNC1H1
CLNDBN Charcot-Marie-Tooth disease
Reversed 0
HGVS NC_000014.8:g.102452262G>A
CLNSRC
CLNACC RCV000144880.1,