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rs154001

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs154001(C;T)
Make rs154001(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position128349443
GeneFBN2
is asnp
is mentioned by
dbSNPrs154001
ebirs154001
HLIrs154001
Exacrs154001
Varsomers154001
Maprs154001
PheGenIrs154001
hapmaprs154001
1000 genomesrs154001
hgdprs154001
ensemblrs154001
gopubmedrs154001
geneviewrs154001
scholarrs154001
googlers154001
pharmgkbrs154001
gwascentralrs154001
openSNPrs154001
23andMers154001
23andMe allrs154001
SNP Nexus

SNPshotrs154001
SNPdbers154001
MSV3drs154001
GWAS Ctlgrs154001
GMAF0.27
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene FBN2
allele T
frequency 0.308
sift TOLERATED
HuRef 1103654220110
Disease Association Defects in FBN2 are the cause of congenital contractural arachnodactyly (CCA) (MIM:121050); also known as Beals syndrome. CCA is phenotypically similar to Marfan syndrome, but does not effect the aorta and the eyes.



OMIM612570
Desc
Variant0003
Relatedalso


ClinVar
Risk rs154001(T;T)
Alt rs154001(T;T)
Reference rs154001(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene FBN2
CLNDBN not specified
Reversed 0
HGVS NC_000005.9:g.127685135C>T
CLNSRC ClinVar GeneDx
CLNACC RCV000117020.3,



GET Evidence
FBN2-V965I
aa_change Val965Ile
aa_change_short V965I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.664715
summary