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rs1057519034

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519034(C;T)
Make rs1057519034(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position68839723
GeneEFNB1
is asnp
is mentioned by
dbSNPrs1057519034
dbSNP (old)rs1057519034
ClinGenrs1057519034
ebirs1057519034
HLIrs1057519034
Exacrs1057519034
Gnomadrs1057519034
Varsomers1057519034
Maprs1057519034
PheGenIrs1057519034
Biobankrs1057519034
1000 genomesrs1057519034
hgdprs1057519034
ensemblrs1057519034
gopubmedrs1057519034
geneviewrs1057519034
scholarrs1057519034
googlers1057519034
pharmgkbrs1057519034
gwascentralrs1057519034
openSNPrs1057519034
23andMers1057519034
23andMe allrs1057519034
SNPshotrs1057519034
SNPdbers1057519034
MSV3drs1057519034
GWAS Ctlgrs1057519034
Max Magnitude0
ClinVar
Risk rs1057519034(T;T)
Alt rs1057519034(T;T)
Reference Rs1057519034(C;C)
Significance Probable-Pathogenic
Disease Craniofrontonasal dysplasia
Variation info
Gene EFNB1
CLNDBN Craniofrontonasal dysplasia
Reversed 0
HGVS NC_000023.10:g.68059566C>T
CLNSRC
CLNACC RCV000415493.1,