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rs111929350

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs111929350(A;A)
Make rs111929350(A;G)
ReferenceGRCh38 38.1/142
Chromosome15
Position48452603
GeneFBN1
is asnp
is mentioned by
dbSNPrs111929350
ebirs111929350
HLIrs111929350
Exacrs111929350
Varsomers111929350
Maprs111929350
PheGenIrs111929350
hapmaprs111929350
1000 genomesrs111929350
hgdprs111929350
ensemblrs111929350
gopubmedrs111929350
geneviewrs111929350
scholarrs111929350
googlers111929350
pharmgkbrs111929350
gwascentralrs111929350
openSNPrs111929350
23andMers111929350
23andMe allrs111929350
SNP Nexus

SNPshotrs111929350
SNPdbers111929350
MSV3drs111929350
GWAS Ctlgrs111929350
Max Magnitude0
ClinVar
Risk rs111929350(G,T;G,T)
Alt rs111929350(G,T;G,T)
Reference rs111929350(C;C)
Significance Pathogenic
Disease Marfan syndrome not provided
Variation info
Gene FBN1
CLNDBN Marfan syndrome not provided
Reversed 0
HGVS NC_000015.9:g.48744800C>G; NC_000015.9:g.48744800C>T
CLNSRC ClinVar
CLNACC RCV000233105.1, RCV000035227.2, RCV000181545.1,