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rs794728319

From SNPedia

Orientationminus
Make rs794728319(-;-)
Make rs794728319(-;AT)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48427731
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728319
ebirs794728319
HLIrs794728319
Exacrs794728319
Varsomers794728319
Maprs794728319
PheGenIrs794728319
hapmaprs794728319
1000 genomesrs794728319
hgdprs794728319
ensemblrs794728319
gopubmedrs794728319
geneviewrs794728319
scholarrs794728319
googlers794728319
pharmgkbrs794728319
gwascentralrs794728319
openSNPrs794728319
23andMers794728319
23andMe allrs794728319
SNP Nexus

SNPshotrs794728319
SNPdbers794728319
MSV3drs794728319
GWAS Ctlgrs794728319
Max Magnitude
ClinVar
Risk rs794728319(;)
Alt rs794728319(;)
Reference rs794728319(AT;AT)
Significance Pathogenic
Disease not provided Marfan syndrome
Variation info
Gene FBN1
CLNDBN not provided Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48719928_48719929delAT
CLNSRC
CLNACC RCV000181674.2, RCV000208062.2,