Have questions? Visit https://www.reddit.com/r/SNPedia

rs869025320

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869025320(C;T)
Make rs869025320(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position209775898
GeneUNC80
is asnp
is mentioned by
dbSNPrs869025320
ebirs869025320
HLIrs869025320
Exacrs869025320
Varsomers869025320
Maprs869025320
PheGenIrs869025320
hapmaprs869025320
1000 genomesrs869025320
hgdprs869025320
ensemblrs869025320
gopubmedrs869025320
geneviewrs869025320
scholarrs869025320
googlers869025320
pharmgkbrs869025320
gwascentralrs869025320
openSNPrs869025320
23andMers869025320
23andMe allrs869025320
SNP Nexus

SNPshotrs869025320
SNPdbers869025320
MSV3drs869025320
GWAS Ctlgrs869025320
Max Magnitude0
ClinVar
Risk rs869025320(T;T)
Alt rs869025320(T;T)
Reference rs869025320(C;C)
Significance Pathogenic
Disease Hypotonia
Variation info
Gene UNC80
CLNDBN Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
Reversed 0
HGVS NC_000002.11:g.210640622C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000207465.3,