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rs1057518444

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518444(C;G)
Make rs1057518444(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48483867
GeneFBN1
is asnp
is mentioned by
dbSNPrs1057518444
dbSNP (classic)rs1057518444
ClinGenrs1057518444
ebirs1057518444
HLIrs1057518444
Exacrs1057518444
Gnomadrs1057518444
Varsomers1057518444
LitVarrs1057518444
Maprs1057518444
PheGenIrs1057518444
Biobankrs1057518444
1000 genomesrs1057518444
hgdprs1057518444
ensemblrs1057518444
geneviewrs1057518444
scholarrs1057518444
googlers1057518444
pharmgkbrs1057518444
gwascentralrs1057518444
openSNPrs1057518444
23andMers1057518444
SNPshotrs1057518444
SNPdbers1057518444
MSV3drs1057518444
GWAS Ctlgrs1057518444
Max Magnitude0
ClinVar
Risk rs1057518444(G;G)
Alt rs1057518444(G;G)
Reference Rs1057518444(C;C)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene FBN1
CLNDBN not provided
Reversed 1
HGVS NC_000015.9:g.48776064G>C
CLNSRC
CLNACC RCV000413109.1,