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rs794728312

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794728312(-;-)
Make rs794728312(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48445400
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728312
dbSNP (classic)rs794728312
ClinGenrs794728312
ebirs794728312
HLIrs794728312
Exacrs794728312
Gnomadrs794728312
Varsomers794728312
LitVarrs794728312
Maprs794728312
PheGenIrs794728312
Biobankrs794728312
1000 genomesrs794728312
hgdprs794728312
ensemblrs794728312
geneviewrs794728312
scholarrs794728312
googlers794728312
pharmgkbrs794728312
gwascentralrs794728312
openSNPrs794728312
23andMers794728312
SNPshotrs794728312
SNPdbers794728312
MSV3drs794728312
GWAS Ctlgrs794728312
Max Magnitude0
ClinVar
Risk rs794728312(-;-)
Alt rs794728312(-;-)
Reference Rs794728312(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene FBN1
CLNDBN not provided
Reversed 1
HGVS NC_000015.9:g.48737597delC
CLNSRC
CLNACC RCV000181667.1,