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rs397515785

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTGGGATTTAC;CTGGGATTTAC) 0 common in clinvar
(TGGGATTTACC;TGGGATTTACC) 0 common in clinvar
Make rs397515785(-;-)
Make rs397515785(-;CCTGGGATTTA)
Make rs397515785(CCTGGGATTTA;CCTGGGATTTA)
ReferenceGRCh38 38.1/141
Chromosome15
Position48644730
GeneFBN1
is asnp
is mentioned by
dbSNPrs397515785
ebirs397515785
HLIrs397515785
Exacrs397515785
Varsomers397515785
Maprs397515785
PheGenIrs397515785
hapmaprs397515785
1000 genomesrs397515785
hgdprs397515785
ensemblrs397515785
gopubmedrs397515785
geneviewrs397515785
scholarrs397515785
googlers397515785
pharmgkbrs397515785
gwascentralrs397515785
openSNPrs397515785
23andMers397515785
23andMe allrs397515785
SNP Nexus

SNPshotrs397515785
SNPdbers397515785
MSV3drs397515785
GWAS Ctlgrs397515785
Max Magnitude0
ClinVar
Risk rs397515785(;)
Alt rs397515785(;)
Reference rs397515785(TGGGATTTACC;TGGGATTTACC)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48936925_48936935delGGTAAATCCCA
CLNSRC ClinVar
CLNACC RCV000035162.2,