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rs200473652

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200473652(C;C)
Make rs200473652(C;G)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position209819105
GeneUNC80
is asnp
is mentioned by
dbSNPrs200473652
dbSNP (old)rs200473652
ClinGenrs200473652
ebirs200473652
HLIrs200473652
Exacrs200473652
Gnomadrs200473652
Varsomers200473652
LitVarrs200473652
Maprs200473652
PheGenIrs200473652
Biobankrs200473652
1000 genomesrs200473652
hgdprs200473652
ensemblrs200473652
gopubmedrs200473652
geneviewrs200473652
scholarrs200473652
googlers200473652
pharmgkbrs200473652
gwascentralrs200473652
openSNPrs200473652
23andMers200473652
23andMe allrs200473652
SNPshotrs200473652
SNPdbers200473652
MSV3drs200473652
GWAS Ctlgrs200473652
Max Magnitude0
ClinVar
Risk rs200473652(C;C)
Alt rs200473652(C;C)
Reference Rs200473652(G;G)
Significance Probable-Pathogenic
Disease Hypotonia
Variation info
Gene UNC80
CLNDBN Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
Reversed 0
HGVS NC_000002.11:g.210683829G>C
CLNSRC
CLNACC RCV000258922.2,