Rs104894801

From SNPedia
Jump to: navigation, search

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894801(C;T)
Make rs104894801(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position68838649
GeneEFNB1
is asnp
is mentioned by
dbSNPrs104894801
Exacrs104894801
PheGenIrs104894801
nextbiors104894801
hapmaprs104894801
1000 genomesrs104894801
hgdprs104894801
ensemblrs104894801
gopubmedrs104894801
geneviewrs104894801
scholarrs104894801
googlers104894801
pharmgkbrs104894801
gwascentralrs104894801
openSNPrs104894801
23andMers104894801
23andMe allrs104894801
SNP Nexus

SNPshotrs104894801
SNPdbers104894801
MSV3drs104894801
OMIM300035
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894801(T;T)
Alt rs104894801(T;T)
Reference rs104894801(C;C)
Significance Pathogenic
Disease Craniofrontonasal dysplasia
Variation info
Gene EFNB1
CLNDBN Craniofrontonasal dysplasia
Reversed 0
HGVS NC_000023.10:g.68058492C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012474.13,