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rs1057519389

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519389(G;T)
Make rs1057519389(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position129957324
GeneEBF3
is asnp
is mentioned by
dbSNPrs1057519389
dbSNP (classic)rs1057519389
biobankenginers1057519389
ClinGenrs1057519389
ebirs1057519389
HLIrs1057519389
Exacrs1057519389
Gnomadrs1057519389
Varsomers1057519389
LitVarrs1057519389
Maprs1057519389
PheGenIrs1057519389
Biobankrs1057519389
1000 genomesrs1057519389
hgdprs1057519389
ensemblrs1057519389
geneviewrs1057519389
scholarrs1057519389
googlers1057519389
pharmgkbrs1057519389
gwascentralrs1057519389
openSNPrs1057519389
23andMers1057519389
23andMe allrs1057519389
SNPshotrs1057519389
SNPdbers1057519389
MSV3drs1057519389
GWAS Ctlgrs1057519389
Max Magnitude0
ClinVar
Risk rs1057519389(A;A) rs1057519389(C;C) rs1057519389(T;T)
Alt rs1057519389(A;A) rs1057519389(C;C) rs1057519389(T;T)
Reference Rs1057519389(G;G)
Significance Pathogenic
Disease Hypotonia Ataxia Expressive language delay Global developmental delay Intellectual disability Muscular hypotonia not provided
Variation info
Gene EBF3
CLNDBN Hypotonia, ataxia, and delayed development syndrome Ataxia Expressive language delay Global developmental delay Intellectual disability Muscular hypotonia not provided
Reversed 1
HGVS NC_000010.10:g.131755588C>A; NC_000010.10:g.131755588C>G; NC_000010.10:g.131755588C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000416975.2, RCV000417075.1, RCV000493860.1, RCV000417019.1, RCV000416944.2, RCV000417073.1,