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rs28936069

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28936069(A;A)
Make rs28936069(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position68839708
GeneEFNB1
is asnp
is mentioned by
dbSNPrs28936069
ebirs28936069
HLIrs28936069
Exacrs28936069
Varsomers28936069
Maprs28936069
PheGenIrs28936069
hapmaprs28936069
1000 genomesrs28936069
hgdprs28936069
ensemblrs28936069
gopubmedrs28936069
geneviewrs28936069
scholarrs28936069
googlers28936069
pharmgkbrs28936069
gwascentralrs28936069
openSNPrs28936069
23andMers28936069
23andMe allrs28936069
SNP Nexus

SNPshotrs28936069
SNPdbers28936069
MSV3drs28936069
GWAS Ctlgrs28936069
Max Magnitude0
OMIM300035
DescCRANIOFRONTONASAL SYNDROME
Variant0004
Relatedalso
Neighborrs28936070
Distance1


ClinVar
Risk rs28936069(A;A)
Alt rs28936069(A;A)
Reference rs28936069(G;G)
Significance Pathogenic
Disease Craniofrontonasal dysplasia
Variation info
Gene EFNB1
CLNDBN Craniofrontonasal dysplasia
Reversed 0
HGVS NC_000023.10:g.68059551G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012475.14,