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rs1057519519

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519519(A;G)
Make rs1057519519(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position129958997
GeneEBF3
is asnp
is mentioned by
dbSNPrs1057519519
dbSNP (old)rs1057519519
ClinGenrs1057519519
ebirs1057519519
HLIrs1057519519
Exacrs1057519519
Gnomadrs1057519519
Varsomers1057519519
Maprs1057519519
PheGenIrs1057519519
Biobankrs1057519519
1000 genomesrs1057519519
hgdprs1057519519
ensemblrs1057519519
gopubmedrs1057519519
geneviewrs1057519519
scholarrs1057519519
googlers1057519519
pharmgkbrs1057519519
gwascentralrs1057519519
openSNPrs1057519519
23andMers1057519519
23andMe allrs1057519519
SNPshotrs1057519519
SNPdbers1057519519
MSV3drs1057519519
GWAS Ctlgrs1057519519
Max Magnitude0
ClinVar
Risk rs1057519519(G;G)
Alt rs1057519519(G;G)
Reference Rs1057519519(A;A)
Significance Pathogenic
Disease Hypotonia
Variation info
Gene EBF3
CLNDBN Hypotonia, ataxia, and delayed development syndrome
Reversed 1
HGVS NC_000010.10:g.131757261T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000417002.1,