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rs864321623

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs864321623(A;A)
Make rs864321623(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position209777524
GeneUNC80
is asnp
is mentioned by
dbSNPrs864321623
ebirs864321623
HLIrs864321623
Exacrs864321623
Varsomers864321623
Maprs864321623
PheGenIrs864321623
hapmaprs864321623
1000 genomesrs864321623
hgdprs864321623
ensemblrs864321623
gopubmedrs864321623
geneviewrs864321623
scholarrs864321623
googlers864321623
pharmgkbrs864321623
gwascentralrs864321623
openSNPrs864321623
23andMers864321623
23andMe allrs864321623
SNP Nexus

SNPshotrs864321623
SNPdbers864321623
MSV3drs864321623
GWAS Ctlgrs864321623
Max Magnitude0
ClinVar
Risk rs864321623(A;A)
Alt rs864321623(A;A)
Reference rs864321623(G;G)
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.210642248G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000203565.1, RCV000207459.1,