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rs112645512

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs112645512(C;T)
Make rs112645512(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position48516225
GeneFBN1
is asnp
is mentioned by
dbSNPrs112645512
ebirs112645512
HLIrs112645512
Exacrs112645512
Varsomers112645512
Maprs112645512
PheGenIrs112645512
hapmaprs112645512
1000 genomesrs112645512
hgdprs112645512
ensemblrs112645512
gopubmedrs112645512
geneviewrs112645512
scholarrs112645512
googlers112645512
pharmgkbrs112645512
gwascentralrs112645512
openSNPrs112645512
23andMers112645512
23andMe allrs112645512
SNP Nexus

SNPshotrs112645512
SNPdbers112645512
MSV3drs112645512
GWAS Ctlgrs112645512
Max Magnitude0
ClinVar
Risk rs112645512(T;T)
Alt rs112645512(T;T)
Reference rs112645512(C;C)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48808422G>A
CLNSRC
CLNACC RCV000157224.1,