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rs1057519033

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519033(C;T)
Make rs1057519033(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position68839664
GeneEFNB1
is asnp
is mentioned by
dbSNPrs1057519033
dbSNP (old)rs1057519033
ClinGenrs1057519033
ebirs1057519033
HLIrs1057519033
Exacrs1057519033
Gnomadrs1057519033
Varsomers1057519033
LitVarrs1057519033
Maprs1057519033
PheGenIrs1057519033
Biobankrs1057519033
1000 genomesrs1057519033
hgdprs1057519033
ensemblrs1057519033
gopubmedrs1057519033
geneviewrs1057519033
scholarrs1057519033
googlers1057519033
pharmgkbrs1057519033
gwascentralrs1057519033
openSNPrs1057519033
23andMers1057519033
23andMe allrs1057519033
SNPshotrs1057519033
SNPdbers1057519033
MSV3drs1057519033
GWAS Ctlgrs1057519033
Max Magnitude0
ClinVar
Risk rs1057519033(T;T)
Alt rs1057519033(T;T)
Reference Rs1057519033(C;C)
Significance Probable-Pathogenic
Disease Craniofrontonasal dysplasia
Variation info
Gene EFNB1
CLNDBN Craniofrontonasal dysplasia
Reversed 0
HGVS NC_000023.10:g.68059507C>T
CLNSRC
CLNACC RCV000415481.1,