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rs794728252

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794728252(A;A)
Make rs794728252(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48436961
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728252
ebirs794728252
HLIrs794728252
Exacrs794728252
Varsomers794728252
Maprs794728252
PheGenIrs794728252
hapmaprs794728252
1000 genomesrs794728252
hgdprs794728252
ensemblrs794728252
gopubmedrs794728252
geneviewrs794728252
scholarrs794728252
googlers794728252
pharmgkbrs794728252
gwascentralrs794728252
openSNPrs794728252
23andMers794728252
23andMe allrs794728252
SNP Nexus

SNPshotrs794728252
SNPdbers794728252
MSV3drs794728252
GWAS Ctlgrs794728252
Max Magnitude0
ClinVar
Risk rs794728252(A,C,T;A,C,T)
Alt rs794728252(A,C,T;A,C,T)
Reference rs794728252(G;G)
Significance Pathogenic
Disease not provided not specified
Variation info
Gene FBN1
CLNDBN not provided not specified
Reversed 1
HGVS NC_000015.9:g.48729158C>A; NC_000015.9:g.48729158C>G; NC_000015.9:g.48729158C>T
CLNSRC
CLNACC RCV000181701.2, RCV000181571.2, RCV000181570.1,