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rs869312845

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869312845(A;A)
Make rs869312845(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position505191
GeneCSNK2A1
is asnp
is mentioned by
dbSNPrs869312845
dbSNP (classic)rs869312845
ClinGenrs869312845
ebirs869312845
HLIrs869312845
Exacrs869312845
Gnomadrs869312845
Varsomers869312845
LitVarrs869312845
Maprs869312845
PheGenIrs869312845
Biobankrs869312845
1000 genomesrs869312845
hgdprs869312845
ensemblrs869312845
geneviewrs869312845
scholarrs869312845
googlers869312845
pharmgkbrs869312845
gwascentralrs869312845
openSNPrs869312845
23andMers869312845
SNPshotrs869312845
SNPdbers869312845
MSV3drs869312845
GWAS Ctlgrs869312845
Max Magnitude0
ClinVar
Risk rs869312845(A;A)
Alt rs869312845(A;A)
Reference Rs869312845(G;G)
Significance Pathogenic
Disease Okur-chung neurodevelopmental syndrome
Variation info
Gene CSNK2A1
CLNDBN Okur-chung neurodevelopmental syndrome
Reversed 1
HGVS NC_000020.10:g.485835C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000239488.1,