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rs200309328

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200309328(C;C)
Make rs200309328(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position48412715
GeneFBN1
is asnp
is mentioned by
dbSNPrs200309328
ebirs200309328
HLIrs200309328
Exacrs200309328
Varsomers200309328
Maprs200309328
PheGenIrs200309328
hapmaprs200309328
1000 genomesrs200309328
hgdprs200309328
ensemblrs200309328
gopubmedrs200309328
geneviewrs200309328
scholarrs200309328
googlers200309328
pharmgkbrs200309328
gwascentralrs200309328
openSNPrs200309328
23andMers200309328
23andMe allrs200309328
SNP Nexus

SNPshotrs200309328
SNPdbers200309328
MSV3drs200309328
GWAS Ctlgrs200309328
Max Magnitude0
ClinVar
Risk rs200309328(A,C;A,C)
Alt rs200309328(A,C;A,C)
Reference rs200309328(G;G)
Significance Pathogenic
Disease Marfan syndrome not provided
Variation info
Gene FBN1
CLNDBN Marfan syndrome not provided
Reversed 0
HGVS NC_000015.9:g.48704912G>A
CLNSRC
CLNACC RCV000150695.1, RCV000181617.2,