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rs869312668

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312668(C;T)
Make rs869312668(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position129957282
GeneEBF3
is asnp
is mentioned by
dbSNPrs869312668
ebirs869312668
HLIrs869312668
Exacrs869312668
Varsomers869312668
Maprs869312668
PheGenIrs869312668
hapmaprs869312668
1000 genomesrs869312668
hgdprs869312668
ensemblrs869312668
gopubmedrs869312668
geneviewrs869312668
scholarrs869312668
googlers869312668
pharmgkbrs869312668
gwascentralrs869312668
openSNPrs869312668
23andMers869312668
23andMe allrs869312668
SNP Nexus

SNPshotrs869312668
SNPdbers869312668
MSV3drs869312668
GWAS Ctlgrs869312668
Max Magnitude0
ClinVar
Risk rs869312668(T;T)
Alt rs869312668(T;T)
Reference rs869312668(C;C)
Significance Pathogenic
Disease Ataxia Delayed speech and language development Intellectual disability (moderate) Muscular hypotonia
Variation info
Gene EBF3
CLNDBN Ataxia Delayed speech and language development Intellectual disability (moderate) Muscular hypotonia
Reversed 1
HGVS NC_000010.10:g.131755546G>A
CLNSRC
CLNACC RCV000209868.2,