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rs1057520679

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057520679(A;A)
Make rs1057520679(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48430748
GeneFBN1
is asnp
is mentioned by
dbSNPrs1057520679
dbSNP (old)rs1057520679
ClinGenrs1057520679
ebirs1057520679
HLIrs1057520679
Exacrs1057520679
Gnomadrs1057520679
Varsomers1057520679
Maprs1057520679
PheGenIrs1057520679
Biobankrs1057520679
1000 genomesrs1057520679
hgdprs1057520679
ensemblrs1057520679
gopubmedrs1057520679
geneviewrs1057520679
scholarrs1057520679
googlers1057520679
pharmgkbrs1057520679
gwascentralrs1057520679
openSNPrs1057520679
23andMers1057520679
23andMe allrs1057520679
SNPshotrs1057520679
SNPdbers1057520679
MSV3drs1057520679
GWAS Ctlgrs1057520679
Max Magnitude0
ClinVar
Risk rs1057520679(A;A)
Alt rs1057520679(A;A)
Reference Rs1057520679(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene FBN1
CLNDBN not provided
Reversed 1
HGVS NC_000015.9:g.48722945C>T
CLNSRC
CLNACC RCV000424583.1,