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rs1057520131

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057520131(G;G)
Make rs1057520131(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48508633
GeneFBN1
is asnp
is mentioned by
dbSNPrs1057520131
dbSNP (old)rs1057520131
ClinGenrs1057520131
ebirs1057520131
HLIrs1057520131
Exacrs1057520131
Gnomadrs1057520131
Varsomers1057520131
Maprs1057520131
PheGenIrs1057520131
Biobankrs1057520131
1000 genomesrs1057520131
hgdprs1057520131
ensemblrs1057520131
gopubmedrs1057520131
geneviewrs1057520131
scholarrs1057520131
googlers1057520131
pharmgkbrs1057520131
gwascentralrs1057520131
openSNPrs1057520131
23andMers1057520131
23andMe allrs1057520131
SNPshotrs1057520131
SNPdbers1057520131
MSV3drs1057520131
GWAS Ctlgrs1057520131
Max Magnitude0
ClinVar
Risk rs1057520131(G;G)
Alt rs1057520131(G;G)
Reference Rs1057520131(T;T)
Significance Pathogenic
Disease not provided
Variation info
Gene FBN1
CLNDBN not provided
Reversed 1
HGVS NC_000015.9:g.48800830A>C
CLNSRC
CLNACC RCV000439856.1,