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rs113001196

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113001196(C;T)
Make rs113001196(T;T)
ReferenceGRCh38 38.1/142
Chromosome15
Position48432947
GeneFBN1
is asnp
is mentioned by
dbSNPrs113001196
ebirs113001196
HLIrs113001196
Exacrs113001196
Varsomers113001196
Maprs113001196
PheGenIrs113001196
hapmaprs113001196
1000 genomesrs113001196
hgdprs113001196
ensemblrs113001196
gopubmedrs113001196
geneviewrs113001196
scholarrs113001196
googlers113001196
pharmgkbrs113001196
gwascentralrs113001196
openSNPrs113001196
23andMers113001196
23andMe allrs113001196
SNP Nexus

SNPshotrs113001196
SNPdbers113001196
MSV3drs113001196
GWAS Ctlgrs113001196
Max Magnitude0
ClinVar
Risk rs113001196(T;T)
Alt rs113001196(T;T)
Reference rs113001196(C;C)
Significance Pathogenic
Disease Marfan syndrome not provided
Variation info
Gene FBN1
CLNDBN Marfan syndrome not provided
Reversed 1
HGVS NC_000015.9:g.48725144G>A
CLNSRC ClinVar
CLNACC RCV000035250.2, RCV000181574.2,