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rs28936070

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28936070(G;T)
Make rs28936070(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position68839709
GeneEFNB1
is asnp
is mentioned by
dbSNPrs28936070
ebirs28936070
HLIrs28936070
Exacrs28936070
Varsomers28936070
Maprs28936070
PheGenIrs28936070
hapmaprs28936070
1000 genomesrs28936070
hgdprs28936070
ensemblrs28936070
gopubmedrs28936070
geneviewrs28936070
scholarrs28936070
googlers28936070
pharmgkbrs28936070
gwascentralrs28936070
openSNPrs28936070
23andMers28936070
23andMe allrs28936070
SNP Nexus

SNPshotrs28936070
SNPdbers28936070
MSV3drs28936070
GWAS Ctlgrs28936070
Max Magnitude0
OMIM300035
DescCRANIOFRONTONASAL SYNDROME
Variant0005
Relatedalso
Neighborrs28936069
Distance1
Neighborrs28936071
Distance20


ClinVar
Risk rs28936070(T;T)
Alt rs28936070(T;T)
Reference rs28936070(G;G)
Significance Pathogenic
Disease Craniofrontonasal dysplasia
Variation info
Gene EFNB1
CLNDBN Craniofrontonasal dysplasia
Reversed 0
HGVS NC_000023.10:g.68059552G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012476.16,