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rs104894804

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894804(C;T)
Make rs104894804(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position68838684
GeneEFNB1
is asnp
is mentioned by
dbSNPrs104894804
ebirs104894804
HLIrs104894804
Exacrs104894804
Varsomers104894804
Maprs104894804
PheGenIrs104894804
hapmaprs104894804
1000 genomesrs104894804
hgdprs104894804
ensemblrs104894804
gopubmedrs104894804
geneviewrs104894804
scholarrs104894804
googlers104894804
pharmgkbrs104894804
gwascentralrs104894804
openSNPrs104894804
23andMers104894804
23andMe allrs104894804
SNP Nexus

SNPshotrs104894804
SNPdbers104894804
MSV3drs104894804
GWAS Ctlgrs104894804
Max Magnitude0
OMIM300035
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104894804(T;T)
Alt rs104894804(T;T)
Reference rs104894804(C;C)
Significance Pathogenic
Disease Craniofrontonasal dysplasia not provided
Variation info
Gene EFNB1
CLNDBN Craniofrontonasal dysplasia not provided
Reversed 0
HGVS NC_000023.10:g.68058527C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012481.25, RCV000224877.1,