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rs1057519437

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519437(A;A)
Make rs1057519437(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position129957300
GeneEBF3
is asnp
is mentioned by
dbSNPrs1057519437
dbSNP (classic)rs1057519437
ClinGenrs1057519437
ebirs1057519437
HLIrs1057519437
Exacrs1057519437
Gnomadrs1057519437
Varsomers1057519437
LitVarrs1057519437
Maprs1057519437
PheGenIrs1057519437
Biobankrs1057519437
1000 genomesrs1057519437
hgdprs1057519437
ensemblrs1057519437
geneviewrs1057519437
scholarrs1057519437
googlers1057519437
pharmgkbrs1057519437
gwascentralrs1057519437
openSNPrs1057519437
23andMers1057519437
23andMe allrs1057519437
SNPshotrs1057519437
SNPdbers1057519437
MSV3drs1057519437
GWAS Ctlgrs1057519437
Max Magnitude0
ClinVar
Risk rs1057519437(A;A)
Alt rs1057519437(A;A)
Reference Rs1057519437(G;G)
Significance Pathogenic
Disease Broad-based gait Developmental regression Generalized hypotonia Neurogenic bladder Renal dysplasia
Variation info
Gene EBF3
CLNDBN Broad-based gait Developmental regression Generalized hypotonia Neurogenic bladder Renal dysplasia
Reversed 1
HGVS NC_000010.10:g.131755564C>T
CLNSRC
CLNACC RCV000416467.1,