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rs398122934

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GCCAGTG;GCCAGTG) 0 common in clinvar
Make rs398122934(-;-)
Make rs398122934(-;GCCAGTG)
ReferenceGRCh38 38.1/141
Chromosome15
Position48472628
GeneFBN1
is asnp
is mentioned by
dbSNPrs398122934
ebirs398122934
HLIrs398122934
Exacrs398122934
Varsomers398122934
Maprs398122934
PheGenIrs398122934
hapmaprs398122934
1000 genomesrs398122934
hgdprs398122934
ensemblrs398122934
gopubmedrs398122934
geneviewrs398122934
scholarrs398122934
googlers398122934
pharmgkbrs398122934
gwascentralrs398122934
openSNPrs398122934
23andMers398122934
23andMe allrs398122934
SNP Nexus

SNPshotrs398122934
SNPdbers398122934
MSV3drs398122934
GWAS Ctlgrs398122934
Max Magnitude0
ClinVar
Risk rs398122934(;)
Alt rs398122934(;)
Reference rs398122934(GCCAGTG;GCCAGTG)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48764825_48764831delCACTGGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000034311.24,