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rs730880106

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880106(A;A)
Make rs730880106(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position48474254
GeneFBN1
is asnp
is mentioned by
dbSNPrs730880106
ebirs730880106
HLIrs730880106
Exacrs730880106
Varsomers730880106
Maprs730880106
PheGenIrs730880106
hapmaprs730880106
1000 genomesrs730880106
hgdprs730880106
ensemblrs730880106
gopubmedrs730880106
geneviewrs730880106
scholarrs730880106
googlers730880106
pharmgkbrs730880106
gwascentralrs730880106
openSNPrs730880106
23andMers730880106
23andMe allrs730880106
SNP Nexus

SNPshotrs730880106
SNPdbers730880106
MSV3drs730880106
GWAS Ctlgrs730880106
Max Magnitude0
ClinVar
Risk rs730880106(A;A)
Alt rs730880106(A;A)
Reference rs730880106(G;G)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48766451C>T
CLNSRC
CLNACC RCV000157233.1,