Rs104894796

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Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894796(C;T)
Make rs104894796(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position68838820
GeneEFNB1
is asnp
is mentioned by
dbSNPrs104894796
Exacrs104894796
PheGenIrs104894796
nextbiors104894796
hapmaprs104894796
1000 genomesrs104894796
hgdprs104894796
ensemblrs104894796
gopubmedrs104894796
geneviewrs104894796
scholarrs104894796
googlers104894796
pharmgkbrs104894796
gwascentralrs104894796
openSNPrs104894796
23andMers104894796
23andMe allrs104894796
SNP Nexus

SNPshotrs104894796
SNPdbers104894796
MSV3drs104894796
Max Magnitude0
OMIM300035
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894796(T;T)
Alt rs104894796(T;T)
Reference rs104894796(C;C)
Significance Pathogenic
Disease Craniofrontonasal dysplasia
Variation info
Gene EFNB1
CLNDBN Craniofrontonasal dysplasia
Reversed 0
HGVS NC_000023.10:g.68058663C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012473.15,