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rs730880097

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs730880097(A;G)
Make rs730880097(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position48644769
GeneFBN1, LOC105370809
is asnp
is mentioned by
dbSNPrs730880097
ebirs730880097
HLIrs730880097
Exacrs730880097
Varsomers730880097
Maprs730880097
PheGenIrs730880097
hapmaprs730880097
1000 genomesrs730880097
hgdprs730880097
ensemblrs730880097
gopubmedrs730880097
geneviewrs730880097
scholarrs730880097
googlers730880097
pharmgkbrs730880097
gwascentralrs730880097
openSNPrs730880097
23andMers730880097
23andMe allrs730880097
SNP Nexus

SNPshotrs730880097
SNPdbers730880097
MSV3drs730880097
GWAS Ctlgrs730880097
Max Magnitude0
ClinVar
Risk rs730880097(G;G)
Alt rs730880097(G;G)
Reference rs730880097(A;A)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48936966T>C
CLNSRC
CLNACC RCV000157222.1,