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rs4775765

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(T;T) 0 common in complete genomics
Make rs4775765(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48515440
GeneFBN1
is asnp
is mentioned by
dbSNPrs4775765
ebirs4775765
HLIrs4775765
Exacrs4775765
Varsomers4775765
Maprs4775765
PheGenIrs4775765
hapmaprs4775765
1000 genomesrs4775765
hgdprs4775765
ensemblrs4775765
gopubmedrs4775765
geneviewrs4775765
scholarrs4775765
googlers4775765
pharmgkbrs4775765
gwascentralrs4775765
openSNPrs4775765
23andMers4775765
23andMe allrs4775765
SNP Nexus

SNPshotrs4775765
SNPdbers4775765
MSV3drs4775765
GWAS Ctlgrs4775765
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene FBN1
allele T
frequency 1
sift TOLERATED
HuRef 1103645604979
Disease Association Defects in FBN1 are a cause of Shprintzen-Goldberg craniosynostosis syndrome (SGS) (MIM:182212). SGS is one of a group of disorders characterized by typical features of the Marfan syndrome along with premature closure of the sutures of the skull, causing deformities such as oxycephaly and scaphocephaly.



GET Evidence
FBN1-C472Y
aa_change Cys472Tyr
aa_change_short C472Y
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 1
summary



ClinVar
Risk rs4775765(T;T)
Alt rs4775765(T;T)
Reference rs4775765(C;C)
Significance Untested
Disease not specified
Variation info
Gene FBN1
CLNDBN not specified
Reversed 0
HGVS NC_000015.9:g.48807637C>T
CLNSRC
CLNACC RCV000223162.1,