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rs730880100

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880100(A;A)
Make rs730880100(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position48488445
GeneFBN1
is asnp
is mentioned by
dbSNPrs730880100
dbSNP (old)rs730880100
ClinGenrs730880100
ebirs730880100
HLIrs730880100
Exacrs730880100
Gnomadrs730880100
Varsomers730880100
Maprs730880100
PheGenIrs730880100
Biobankrs730880100
1000 genomesrs730880100
hgdprs730880100
ensemblrs730880100
gopubmedrs730880100
geneviewrs730880100
scholarrs730880100
googlers730880100
pharmgkbrs730880100
gwascentralrs730880100
openSNPrs730880100
23andMers730880100
23andMe allrs730880100
SNP Nexus

SNPshotrs730880100
SNPdbers730880100
MSV3drs730880100
GWAS Ctlgrs730880100
Max Magnitude0
ClinVar
Risk rs730880100(A;A)
Alt rs730880100(A;A)
Reference Rs730880100(G;G)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48780642C>T
CLNSRC
CLNACC RCV000157226.1,