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rs397515775

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515775(A;A)
Make rs397515775(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48495513
GeneFBN1
is asnp
is mentioned by
dbSNPrs397515775
dbSNP (classic)rs397515775
ClinGenrs397515775
ebirs397515775
HLIrs397515775
Exacrs397515775
Gnomadrs397515775
Varsomers397515775
LitVarrs397515775
Maprs397515775
PheGenIrs397515775
Biobankrs397515775
1000 genomesrs397515775
hgdprs397515775
ensemblrs397515775
geneviewrs397515775
scholarrs397515775
googlers397515775
pharmgkbrs397515775
gwascentralrs397515775
openSNPrs397515775
23andMers397515775
SNPshotrs397515775
SNPdbers397515775
MSV3drs397515775
GWAS Ctlgrs397515775
Max Magnitude0
ClinVar
Risk rs397515775(A;A)
Alt rs397515775(A;A)
Reference Rs397515775(G;G)
Significance Pathogenic
Disease Marfan syndrome not provided
Variation info
Gene FBN1
CLNDBN Marfan syndrome not provided
Reversed 1
HGVS NC_000015.9:g.48787710C>T
CLNSRC ClinVar
CLNACC RCV000035145.2, RCV000427032.1,