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rs730880099

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880099(C;T)
Make rs730880099(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position48510125
GeneFBN1
is asnp
is mentioned by
dbSNPrs730880099
ebirs730880099
HLIrs730880099
Exacrs730880099
Varsomers730880099
Maprs730880099
PheGenIrs730880099
hapmaprs730880099
1000 genomesrs730880099
hgdprs730880099
ensemblrs730880099
gopubmedrs730880099
geneviewrs730880099
scholarrs730880099
googlers730880099
pharmgkbrs730880099
gwascentralrs730880099
openSNPrs730880099
23andMers730880099
23andMe allrs730880099
SNP Nexus

SNPshotrs730880099
SNPdbers730880099
MSV3drs730880099
GWAS Ctlgrs730880099
Max Magnitude0
ClinVar
Risk rs730880099(T;T)
Alt rs730880099(T;T)
Reference rs730880099(C;C)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48802322G>A
CLNSRC
CLNACC RCV000157225.1,