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rs869312846

From SNPedia

Orientationminus
Stabilizedminus
Make rs869312846(C;C)
Make rs869312846(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position488676
GeneCSNK2A1
is asnp
is mentioned by
dbSNPrs869312846
dbSNP (classic)rs869312846
ClinGenrs869312846
ebirs869312846
HLIrs869312846
Exacrs869312846
Gnomadrs869312846
Varsomers869312846
LitVarrs869312846
Maprs869312846
PheGenIrs869312846
Biobankrs869312846
1000 genomesrs869312846
hgdprs869312846
ensemblrs869312846
geneviewrs869312846
scholarrs869312846
googlers869312846
pharmgkbrs869312846
gwascentralrs869312846
openSNPrs869312846
23andMers869312846
SNPshotrs869312846
SNPdbers869312846
MSV3drs869312846
GWAS Ctlgrs869312846
Max Magnitude0
ClinVar
Risk rs869312846(C;C)
Alt rs869312846(C;C)
Reference Rs869312846(T;T)
Significance Pathogenic
Disease Okur-chung neurodevelopmental syndrome
Variation info
Gene CSNK2A1
CLNDBN Okur-chung neurodevelopmental syndrome
Reversed 1
HGVS NC_000020.10:g.469320A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000239569.1,