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rs730880104

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;T) 5.5 Marfan syndrome mutation
(T;T) 0 common in clinvar


Make rs730880104(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position48445432
GeneFBN1
is asnp
is mentioned by
dbSNPrs730880104
dbSNP (classic)rs730880104
ClinGenrs730880104
ebirs730880104
HLIrs730880104
Exacrs730880104
Gnomadrs730880104
Varsomers730880104
LitVarrs730880104
Maprs730880104
PheGenIrs730880104
Biobankrs730880104
1000 genomesrs730880104
hgdprs730880104
ensemblrs730880104
geneviewrs730880104
scholarrs730880104
googlers730880104
pharmgkbrs730880104
gwascentralrs730880104
openSNPrs730880104
23andMers730880104
SNPshotrs730880104
SNPdbers730880104
MSV3drs730880104
GWAS Ctlgrs730880104
Max Magnitude5.5
ClinVar
Risk rs730880104(G;G)
Alt rs730880104(G;G)
Reference Rs730880104(T;T)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48737629A>C
CLNSRC
CLNACC RCV000157231.1,