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rs730880356

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs730880356(-;-)
Make rs730880356(-;G)
Make rs730880356(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position48515519
GeneFBN1
is asnp
is mentioned by
dbSNPrs730880356
ebirs730880356
HLIrs730880356
Exacrs730880356
Varsomers730880356
Maprs730880356
PheGenIrs730880356
hapmaprs730880356
1000 genomesrs730880356
hgdprs730880356
ensemblrs730880356
gopubmedrs730880356
geneviewrs730880356
scholarrs730880356
googlers730880356
pharmgkbrs730880356
gwascentralrs730880356
openSNPrs730880356
23andMers730880356
23andMe allrs730880356
SNP Nexus

SNPshotrs730880356
SNPdbers730880356
MSV3drs730880356
GWAS Ctlgrs730880356
Max Magnitude0
ClinVar
Risk rs730880356(G;G)
Alt rs730880356(G;G)
Reference rs730880356(;)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48807717dupC
CLNSRC
CLNACC RCV000156089.1,