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rs1057519518

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519518(A;G)
Make rs1057519518(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position129963462
GeneEBF3
is asnp
is mentioned by
dbSNPrs1057519518
dbSNP (old)rs1057519518
ClinGenrs1057519518
ebirs1057519518
HLIrs1057519518
Exacrs1057519518
Gnomadrs1057519518
Varsomers1057519518
Maprs1057519518
PheGenIrs1057519518
Biobankrs1057519518
1000 genomesrs1057519518
hgdprs1057519518
ensemblrs1057519518
gopubmedrs1057519518
geneviewrs1057519518
scholarrs1057519518
googlers1057519518
pharmgkbrs1057519518
gwascentralrs1057519518
openSNPrs1057519518
23andMers1057519518
23andMe allrs1057519518
SNPshotrs1057519518
SNPdbers1057519518
MSV3drs1057519518
GWAS Ctlgrs1057519518
Max Magnitude0
ClinVar
Risk rs1057519518(G;G)
Alt rs1057519518(G;G)
Reference Rs1057519518(A;A)
Significance Pathogenic
Disease Hypotonia
Variation info
Gene EBF3
CLNDBN Hypotonia, ataxia, and delayed development syndrome
Reversed 1
HGVS NC_000010.10:g.131761726T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000416941.1,