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rs145942328

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs145942328(C;T)
Make rs145942328(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48613072
GeneFBN1
is asnp
is mentioned by
dbSNPrs145942328
ebirs145942328
HLIrs145942328
Exacrs145942328
Varsomers145942328
Maprs145942328
PheGenIrs145942328
hapmaprs145942328
1000 genomesrs145942328
hgdprs145942328
ensemblrs145942328
gopubmedrs145942328
geneviewrs145942328
scholarrs145942328
googlers145942328
pharmgkbrs145942328
gwascentralrs145942328
openSNPrs145942328
23andMers145942328
23andMe allrs145942328
SNP Nexus

SNPshotrs145942328
SNPdbers145942328
MSV3drs145942328
GWAS Ctlgrs145942328
Max Magnitude0
ClinVar
Risk rs145942328(T;T)
Alt rs145942328(T;T)
Reference rs145942328(C;C)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 0
HGVS NC_000015.9:g.48905269C>T
CLNSRC ClinVar
CLNACC RCV000035130.2,