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rs730880105

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs730880105(C;C)
Make rs730880105(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position48503785
GeneFBN1
is asnp
is mentioned by
dbSNPrs730880105
ebirs730880105
HLIrs730880105
Exacrs730880105
Varsomers730880105
Maprs730880105
PheGenIrs730880105
hapmaprs730880105
1000 genomesrs730880105
hgdprs730880105
ensemblrs730880105
gopubmedrs730880105
geneviewrs730880105
scholarrs730880105
googlers730880105
pharmgkbrs730880105
gwascentralrs730880105
openSNPrs730880105
23andMers730880105
23andMe allrs730880105
SNP Nexus

SNPshotrs730880105
SNPdbers730880105
MSV3drs730880105
GWAS Ctlgrs730880105
Max Magnitude0
ClinVar
Risk rs730880105(C;C)
Alt rs730880105(C;C)
Reference rs730880105(T;T)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48795982A>G
CLNSRC
CLNACC RCV000157232.1,