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rs112728248

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs112728248(C;T)
Make rs112728248(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48448812
GeneFBN1
is asnp
is mentioned by
dbSNPrs112728248
dbSNP (old)rs112728248
ClinGenrs112728248
ebirs112728248
HLIrs112728248
Exacrs112728248
Gnomadrs112728248
Varsomers112728248
Maprs112728248
PheGenIrs112728248
Biobankrs112728248
1000 genomesrs112728248
hgdprs112728248
ensemblrs112728248
gopubmedrs112728248
geneviewrs112728248
scholarrs112728248
googlers112728248
pharmgkbrs112728248
gwascentralrs112728248
openSNPrs112728248
23andMers112728248
23andMe allrs112728248
SNPshotrs112728248
SNPdbers112728248
MSV3drs112728248
GWAS Ctlgrs112728248
Max Magnitude0
ClinVar
Risk rs112728248(T;T)
Alt rs112728248(T;T)
Reference Rs112728248(C;C)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 0
HGVS NC_000015.9:g.48741009C>T
CLNSRC
CLNACC RCV000457537.1,