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rs200659479

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200659479(C;T)
Make rs200659479(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position209813719
GeneUNC80
is asnp
is mentioned by
dbSNPrs200659479
ebirs200659479
HLIrs200659479
Exacrs200659479
Varsomers200659479
Maprs200659479
PheGenIrs200659479
hapmaprs200659479
1000 genomesrs200659479
hgdprs200659479
ensemblrs200659479
gopubmedrs200659479
geneviewrs200659479
scholarrs200659479
googlers200659479
pharmgkbrs200659479
gwascentralrs200659479
openSNPrs200659479
23andMers200659479
23andMe allrs200659479
SNP Nexus

SNPshotrs200659479
SNPdbers200659479
MSV3drs200659479
GWAS Ctlgrs200659479
Max Magnitude0
ClinVar
Risk rs200659479(T;T)
Alt rs200659479(T;T)
Reference rs200659479(C;C)
Significance Pathogenic
Disease Encephalopathy Hypotonia
Variation info
Gene UNC80
CLNDBN Encephalopathy Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
Reversed 0
HGVS NC_000002.11:g.210678443C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000203562.1, RCV000207471.1,