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rs1057520728

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057520728(C;C)
Make rs1057520728(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48422057
GeneFBN1
is asnp
is mentioned by
dbSNPrs1057520728
dbSNP (old)rs1057520728
ClinGenrs1057520728
ebirs1057520728
HLIrs1057520728
Exacrs1057520728
Gnomadrs1057520728
Varsomers1057520728
LitVarrs1057520728
Maprs1057520728
PheGenIrs1057520728
Biobankrs1057520728
1000 genomesrs1057520728
hgdprs1057520728
ensemblrs1057520728
gopubmedrs1057520728
geneviewrs1057520728
scholarrs1057520728
googlers1057520728
pharmgkbrs1057520728
gwascentralrs1057520728
openSNPrs1057520728
23andMers1057520728
23andMe allrs1057520728
SNPshotrs1057520728
SNPdbers1057520728
MSV3drs1057520728
GWAS Ctlgrs1057520728
Max Magnitude0
ClinVar
Risk rs1057520728(C;C)
Alt rs1057520728(C;C)
Reference Rs1057520728(T;T)
Significance Pathogenic
Disease not provided
Variation info
Gene FBN1
CLNDBN not provided
Reversed 1
HGVS NC_000015.9:g.48714254A>G
CLNSRC
CLNACC RCV000440702.1,