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rs111231312

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111231312(C;T)
Make rs111231312(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48468070
GeneFBN1
is asnp
is mentioned by
dbSNPrs111231312
ebirs111231312
HLIrs111231312
Exacrs111231312
Varsomers111231312
Maprs111231312
PheGenIrs111231312
hapmaprs111231312
1000 genomesrs111231312
hgdprs111231312
ensemblrs111231312
gopubmedrs111231312
geneviewrs111231312
scholarrs111231312
googlers111231312
pharmgkbrs111231312
gwascentralrs111231312
openSNPrs111231312
23andMers111231312
23andMe allrs111231312
SNP Nexus

SNPshotrs111231312
SNPdbers111231312
MSV3drs111231312
GWAS Ctlgrs111231312
Max Magnitude0
ClinVar
Risk rs111231312(T;T)
Alt rs111231312(T;T)
Reference rs111231312(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.48760267G>A
CLNSRC ClinVar
CLNACC RCV000035206.3, RCV000181528.1,