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rs28936071

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28936071(A;G)
Make rs28936071(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position68839729
GeneEFNB1
is asnp
is mentioned by
dbSNPrs28936071
ebirs28936071
HLIrs28936071
Exacrs28936071
Varsomers28936071
Maprs28936071
PheGenIrs28936071
hapmaprs28936071
1000 genomesrs28936071
hgdprs28936071
ensemblrs28936071
gopubmedrs28936071
geneviewrs28936071
scholarrs28936071
googlers28936071
pharmgkbrs28936071
gwascentralrs28936071
openSNPrs28936071
23andMers28936071
23andMe allrs28936071
SNP Nexus

SNPshotrs28936071
SNPdbers28936071
MSV3drs28936071
GWAS Ctlgrs28936071
Max Magnitude0
OMIM300035
DescCRANIOFRONTONASAL SYNDROME
Variant0006
Relatedalso
Neighborrs28936070
Distance20
Neighborrs28935170
Distance2


ClinVar
Risk rs28936071(G;G)
Alt rs28936071(G;G)
Reference rs28936071(A;A)
Significance Pathogenic
Disease Craniofrontonasal dysplasia
Variation info
Gene EFNB1
CLNDBN Craniofrontonasal dysplasia
Reversed 0
HGVS NC_000023.10:g.68059572A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012477.22,