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rs869312848

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869312848(A;G)
Make rs869312848(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position492351
GeneCSNK2A1
is asnp
is mentioned by
dbSNPrs869312848
dbSNP (old)rs869312848
ClinGenrs869312848
ebirs869312848
HLIrs869312848
Exacrs869312848
Gnomadrs869312848
Varsomers869312848
Maprs869312848
PheGenIrs869312848
Biobankrs869312848
1000 genomesrs869312848
hgdprs869312848
ensemblrs869312848
gopubmedrs869312848
geneviewrs869312848
scholarrs869312848
googlers869312848
pharmgkbrs869312848
gwascentralrs869312848
openSNPrs869312848
23andMers869312848
23andMe allrs869312848
SNP Nexus

SNPshotrs869312848
SNPdbers869312848
MSV3drs869312848
GWAS Ctlgrs869312848
Max Magnitude0
ClinVar
Risk rs869312848(G;G)
Alt rs869312848(G;G)
Reference Rs869312848(A;A)
Significance Pathogenic
Disease Okur-chung neurodevelopmental syndrome
Variation info
Gene CSNK2A1
CLNDBN Okur-chung neurodevelopmental syndrome
Reversed 1
HGVS NC_000020.10:g.472995T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000239534.1,