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rs111978932

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111978932(C;G)
Make rs111978932(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome15
Position48470639
GeneFBN1
is asnp
is mentioned by
dbSNPrs111978932
ebirs111978932
HLIrs111978932
Exacrs111978932
Varsomers111978932
Maprs111978932
PheGenIrs111978932
hapmaprs111978932
1000 genomesrs111978932
hgdprs111978932
ensemblrs111978932
gopubmedrs111978932
geneviewrs111978932
scholarrs111978932
googlers111978932
pharmgkbrs111978932
gwascentralrs111978932
openSNPrs111978932
23andMers111978932
23andMe allrs111978932
SNP Nexus

SNPshotrs111978932
SNPdbers111978932
MSV3drs111978932
GWAS Ctlgrs111978932
Max Magnitude0
ClinVar
Risk rs111978932(G;G)
Alt rs111978932(G;G)
Reference rs111978932(C;C)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 0
HGVS NC_000015.9:g.48762836C>G
CLNSRC
CLNACC RCV000232283.1,