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rs397515803

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TGGCCAGTG;TGGCCAGTG) 0 common in clinvar
Make rs397515803(-;-)
Make rs397515803(-;TGGCCAGTG)
ReferenceGRCh38 38.1/141
Chromosome15
Position48472628
GeneFBN1
is asnp
is mentioned by
dbSNPrs397515803
ebirs397515803
HLIrs397515803
Exacrs397515803
Varsomers397515803
Maprs397515803
PheGenIrs397515803
hapmaprs397515803
1000 genomesrs397515803
hgdprs397515803
ensemblrs397515803
gopubmedrs397515803
geneviewrs397515803
scholarrs397515803
googlers397515803
pharmgkbrs397515803
gwascentralrs397515803
openSNPrs397515803
23andMers397515803
23andMe allrs397515803
SNP Nexus

SNPshotrs397515803
SNPdbers397515803
MSV3drs397515803
GWAS Ctlgrs397515803
Max Magnitude0
ClinVar
Risk rs397515803(;)
Alt rs397515803(;)
Reference rs397515803(TGGCCAGTG;TGGCCAGTG)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48764825_48764833delCACTGGCCA
CLNSRC ClinVar
CLNACC RCV000035192.2,