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rs864321622

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs864321622(C;T)
Make rs864321622(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position209872917
GeneUNC80
is asnp
is mentioned by
dbSNPrs864321622
ebirs864321622
HLIrs864321622
Exacrs864321622
Varsomers864321622
Maprs864321622
PheGenIrs864321622
hapmaprs864321622
1000 genomesrs864321622
hgdprs864321622
ensemblrs864321622
gopubmedrs864321622
geneviewrs864321622
scholarrs864321622
googlers864321622
pharmgkbrs864321622
gwascentralrs864321622
openSNPrs864321622
23andMers864321622
23andMe allrs864321622
SNP Nexus

SNPshotrs864321622
SNPdbers864321622
MSV3drs864321622
GWAS Ctlgrs864321622
Max Magnitude0
ClinVar
Risk rs864321622(T;T)
Alt rs864321622(T;T)
Reference rs864321622(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.210737641C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000203568.1, RCV000207466.1,