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rs28935170

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28935170(G;T)
Make rs28935170(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position68839731
GeneEFNB1
is asnp
is mentioned by
dbSNPrs28935170
ebirs28935170
HLIrs28935170
Exacrs28935170
Varsomers28935170
Maprs28935170
PheGenIrs28935170
hapmaprs28935170
1000 genomesrs28935170
hgdprs28935170
ensemblrs28935170
gopubmedrs28935170
geneviewrs28935170
scholarrs28935170
googlers28935170
pharmgkbrs28935170
gwascentralrs28935170
openSNPrs28935170
23andMers28935170
23andMe allrs28935170
SNP Nexus

SNPshotrs28935170
SNPdbers28935170
MSV3drs28935170
GWAS Ctlgrs28935170
Max Magnitude0
OMIM300035
DescCRANIOFRONTONASAL SYNDROME
Variant0007
Relatedalso
Neighborrs28936071
Distance2


ClinVar
Risk rs28935170(T;T)
Alt rs28935170(T;T)
Reference rs28935170(G;G)
Significance Pathogenic
Disease Craniofrontonasal dysplasia
Variation info
Gene EFNB1
CLNDBN Craniofrontonasal dysplasia
Reversed 0
HGVS NC_000023.10:g.68059574G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012478.24,