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rs199474693

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199474693(G;G)
Make rs199474693(G;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48600196
GeneFBN1
is asnp
is mentioned by
dbSNPrs199474693
ebirs199474693
HLIrs199474693
Exacrs199474693
Varsomers199474693
Maprs199474693
PheGenIrs199474693
hapmaprs199474693
1000 genomesrs199474693
hgdprs199474693
ensemblrs199474693
gopubmedrs199474693
geneviewrs199474693
scholarrs199474693
googlers199474693
pharmgkbrs199474693
gwascentralrs199474693
openSNPrs199474693
23andMers199474693
23andMe allrs199474693
SNP Nexus

SNPshotrs199474693
SNPdbers199474693
MSV3drs199474693
GWAS Ctlgrs199474693
Max Magnitude0
ClinVar
Risk rs199474693(G;G)
Alt rs199474693(G;G)
Reference rs199474693(T;T)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48892393A>C
CLNSRC ClinVar
CLNACC RCV000114817.1,