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rs1057519521

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GAGA;GAGA) 0 common in clinvar
Make rs1057519521(-;-)
Make rs1057519521(-;GAGA)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position129963375
GeneEBF3
is asnp
is mentioned by
dbSNPrs1057519521
dbSNP (old)rs1057519521
ClinGenrs1057519521
ebirs1057519521
HLIrs1057519521
Exacrs1057519521
Gnomadrs1057519521
Varsomers1057519521
Maprs1057519521
PheGenIrs1057519521
Biobankrs1057519521
1000 genomesrs1057519521
hgdprs1057519521
ensemblrs1057519521
gopubmedrs1057519521
geneviewrs1057519521
scholarrs1057519521
googlers1057519521
pharmgkbrs1057519521
gwascentralrs1057519521
openSNPrs1057519521
23andMers1057519521
23andMe allrs1057519521
SNPshotrs1057519521
SNPdbers1057519521
MSV3drs1057519521
GWAS Ctlgrs1057519521
Max Magnitude0
ClinVar
Risk rs1057519521(-;-)
Alt rs1057519521(-;-)
Reference Rs1057519521(GAGA;GAGA)
Significance Pathogenic
Disease Hypotonia
Variation info
Gene EBF3
CLNDBN Hypotonia, ataxia, and delayed development syndrome
Reversed 1
HGVS NC_000010.10:g.131761639_131761642delTCTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000416978.1,