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rs1057519092

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519092(C;T)
Make rs1057519092(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position129957325
GeneEBF3
is asnp
is mentioned by
dbSNPrs1057519092
dbSNP (old)rs1057519092
ClinGenrs1057519092
ebirs1057519092
HLIrs1057519092
Exacrs1057519092
Gnomadrs1057519092
Varsomers1057519092
Maprs1057519092
PheGenIrs1057519092
Biobankrs1057519092
1000 genomesrs1057519092
hgdprs1057519092
ensemblrs1057519092
gopubmedrs1057519092
geneviewrs1057519092
scholarrs1057519092
googlers1057519092
pharmgkbrs1057519092
gwascentralrs1057519092
openSNPrs1057519092
23andMers1057519092
23andMe allrs1057519092
SNPshotrs1057519092
SNPdbers1057519092
MSV3drs1057519092
GWAS Ctlgrs1057519092
Max Magnitude0
ClinVar
Risk rs1057519092(T;T)
Alt rs1057519092(T;T)
Reference Rs1057519092(C;C)
Significance Pathogenic
Disease EBF3-related disorder
Variation info
Gene EBF3
CLNDBN EBF3-related disorder
Reversed 1
HGVS NC_000010.10:g.131755589G>A
CLNSRC
CLNACC RCV000415489.1,