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rs876657679

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs876657679(G;T)
Make rs876657679(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position13913639
GeneCC2D1A
is asnp
is mentioned by
dbSNPrs876657679
dbSNP (classic)rs876657679
ClinGenrs876657679
ebirs876657679
HLIrs876657679
Exacrs876657679
Gnomadrs876657679
Varsomers876657679
LitVarrs876657679
Maprs876657679
PheGenIrs876657679
Biobankrs876657679
1000 genomesrs876657679
hgdprs876657679
ensemblrs876657679
geneviewrs876657679
scholarrs876657679
googlers876657679
pharmgkbrs876657679
gwascentralrs876657679
openSNPrs876657679
23andMers876657679
SNPshotrs876657679
SNPdbers876657679
MSV3drs876657679
GWAS Ctlgrs876657679
Max Magnitude0
ClinVar
Risk rs876657679(T;T)
Alt rs876657679(T;T)
Reference Rs876657679(G;G)
Significance Pathogenic
Disease Autosomal recessive non-syndromic intellectual disability not provided
Variation info
Gene CC2D1A
CLNDBN Autosomal recessive non-syndromic intellectual disability not provided
Reversed 0
HGVS NC_000019.9:g.14024452G>T
CLNSRC
CLNACC RCV000213961.1, RCV000349177.1,