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rs775543440

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs775543440(C;C)
Make rs775543440(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48474315
GeneFBN1
is asnp
is mentioned by
dbSNPrs775543440
dbSNP (classic)rs775543440
ClinGenrs775543440
ebirs775543440
HLIrs775543440
Exacrs775543440
Gnomadrs775543440
Varsomers775543440
LitVarrs775543440
Maprs775543440
PheGenIrs775543440
Biobankrs775543440
1000 genomesrs775543440
hgdprs775543440
ensemblrs775543440
geneviewrs775543440
scholarrs775543440
googlers775543440
pharmgkbrs775543440
gwascentralrs775543440
openSNPrs775543440
23andMers775543440
SNPshotrs775543440
SNPdbers775543440
MSV3drs775543440
GWAS Ctlgrs775543440
Max Magnitude0
ClinVar
Risk rs775543440(C;C)
Alt rs775543440(C;C)
Reference Rs775543440(T;T)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene FBN1
CLNDBN not provided
Reversed 0
HGVS NC_000015.9:g.48766512T>C
CLNSRC
CLNACC RCV000181510.2,