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rs747049980

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs747049980(G;T)
Make rs747049980(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48537625
GeneFBN1
is asnp
is mentioned by
dbSNPrs747049980
dbSNP (classic)rs747049980
ClinGenrs747049980
ebirs747049980
HLIrs747049980
Exacrs747049980
Gnomadrs747049980
Varsomers747049980
LitVarrs747049980
Maprs747049980
PheGenIrs747049980
Biobankrs747049980
1000 genomesrs747049980
hgdprs747049980
ensemblrs747049980
geneviewrs747049980
scholarrs747049980
googlers747049980
pharmgkbrs747049980
gwascentralrs747049980
openSNPrs747049980
23andMers747049980
SNPshotrs747049980
SNPdbers747049980
MSV3drs747049980
GWAS Ctlgrs747049980
Max Magnitude0
ClinVar
Risk rs747049980(A;A) rs747049980(T;T)
Alt rs747049980(A;A) rs747049980(T;T)
Reference Rs747049980(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene FBN1
CLNDBN not provided
Reversed 0
HGVS NC_000015.9:g.48829822G>A
CLNSRC
CLNACC RCV000181416.1,