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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
dbSNP (classic)rs154001
ClinGenrs154001
ebirs154001
HLIrs154001
Exacrs154001
Gnomadrs154001
Varsomers154001
LitVarrs154001
Maprs154001
PheGenIrs154001
Biobankrs154001
1000 genomesrs154001
hgdprs154001
ensemblrs154001
geneviewrs154001
scholarrs154001
googlers154001
pharmgkbrs154001
gwascentralrs154001
openSNPrs154001
23andMers154001
23andMe allrs154001
SNPshotrs154001
SNPdbers154001
MSV3drs154001
GWAS Ctlgrs154001
GMAF0.27
Max Magnitude0
? (C;C) (C;T) (T;T) 28


OMIM612570
Desc
Variant0003
Relatedalso


ClinVar
Risk rs154001(T;T)
Alt rs154001(T;T)
Reference Rs154001(C;C)
Significance Non-pathogenic
Disease not specified Thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly
Variation info
Gene FBN2
CLNDBN not specified Thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly
Reversed 0
HGVS NC_000005.9:g.127685135C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000117020.4, RCV000244792.1, RCV000342582.1,