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rs1057519520

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519520(G;T)
Make rs1057519520(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position129877825
GeneEBF3
is asnp
is mentioned by
dbSNPrs1057519520
dbSNP (old)rs1057519520
ClinGenrs1057519520
ebirs1057519520
HLIrs1057519520
Exacrs1057519520
Gnomadrs1057519520
Varsomers1057519520
LitVarrs1057519520
Maprs1057519520
PheGenIrs1057519520
Biobankrs1057519520
1000 genomesrs1057519520
hgdprs1057519520
ensemblrs1057519520
gopubmedrs1057519520
geneviewrs1057519520
scholarrs1057519520
googlers1057519520
pharmgkbrs1057519520
gwascentralrs1057519520
openSNPrs1057519520
23andMers1057519520
23andMe allrs1057519520
SNPshotrs1057519520
SNPdbers1057519520
MSV3drs1057519520
GWAS Ctlgrs1057519520
Max Magnitude0
ClinVar
Risk rs1057519520(T;T)
Alt rs1057519520(T;T)
Reference Rs1057519520(G;G)
Significance Pathogenic
Disease Hypotonia
Variation info
Gene EBF3
CLNDBN Hypotonia, ataxia, and delayed development syndrome
Reversed 1
HGVS NC_000010.10:g.131676089C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000416948.1,