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rs1057519035

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519035(-;-)
Make rs1057519035(-;C)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position68840021
GeneEFNB1
is asnp
is mentioned by
dbSNPrs1057519035
dbSNP (old)rs1057519035
ClinGenrs1057519035
ebirs1057519035
HLIrs1057519035
Exacrs1057519035
Gnomadrs1057519035
Varsomers1057519035
Maprs1057519035
PheGenIrs1057519035
Biobankrs1057519035
1000 genomesrs1057519035
hgdprs1057519035
ensemblrs1057519035
gopubmedrs1057519035
geneviewrs1057519035
scholarrs1057519035
googlers1057519035
pharmgkbrs1057519035
gwascentralrs1057519035
openSNPrs1057519035
23andMers1057519035
23andMe allrs1057519035
SNPshotrs1057519035
SNPdbers1057519035
MSV3drs1057519035
GWAS Ctlgrs1057519035
Max Magnitude0
ClinVar
Risk rs1057519035(-;-)
Alt rs1057519035(-;-)
Reference Rs1057519035(C;C)
Significance Pathogenic
Disease Craniofrontonasal dysplasia
Variation info
Gene EFNB1
CLNDBN Craniofrontonasal dysplasia
Reversed 0
HGVS NC_000023.10:g.68059864delC
CLNSRC
CLNACC RCV000415511.1,