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rs587777109

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587777109(C;T)
Make rs587777109(T;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position68839753
GeneEFNB1
is asnp
is mentioned by
dbSNPrs587777109
ebirs587777109
HLIrs587777109
Exacrs587777109
Varsomers587777109
Maprs587777109
PheGenIrs587777109
hapmaprs587777109
1000 genomesrs587777109
hgdprs587777109
ensemblrs587777109
gopubmedrs587777109
geneviewrs587777109
scholarrs587777109
googlers587777109
pharmgkbrs587777109
gwascentralrs587777109
openSNPrs587777109
23andMers587777109
23andMe allrs587777109
SNP Nexus

SNPshotrs587777109
SNPdbers587777109
MSV3drs587777109
GWAS Ctlgrs587777109
Max Magnitude0
ClinVar
Risk rs587777109(T;T)
Alt rs587777109(T;T)
Reference rs587777109(C;C)
Significance Pathogenic
Disease Craniofrontonasal dysplasia
Variation info
Gene EFNB1
CLNDBN Craniofrontonasal dysplasia
Reversed 0
HGVS NC_000023.10:g.68059596C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000087027.3,