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rs730880101

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs730880101(C;C)
Make rs730880101(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position48470640
GeneFBN1
is asnp
is mentioned by
dbSNPrs730880101
ebirs730880101
HLIrs730880101
Exacrs730880101
Varsomers730880101
Maprs730880101
PheGenIrs730880101
hapmaprs730880101
1000 genomesrs730880101
hgdprs730880101
ensemblrs730880101
gopubmedrs730880101
geneviewrs730880101
scholarrs730880101
googlers730880101
pharmgkbrs730880101
gwascentralrs730880101
openSNPrs730880101
23andMers730880101
23andMe allrs730880101
SNP Nexus

SNPshotrs730880101
SNPdbers730880101
MSV3drs730880101
GWAS Ctlgrs730880101
Max Magnitude0
ClinVar
Risk rs730880101(C;C)
Alt rs730880101(C;C)
Reference rs730880101(T;T)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48762837A>G
CLNSRC
CLNACC RCV000157228.1,