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rs1057518012

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GAGG;GAGG) 0 common in clinvar
Make rs1057518012(-;-)
Make rs1057518012(-;GAGG)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48425387
GeneFBN1
is asnp
is mentioned by
dbSNPrs1057518012
dbSNP (classic)rs1057518012
ClinGenrs1057518012
ebirs1057518012
HLIrs1057518012
Exacrs1057518012
Gnomadrs1057518012
Varsomers1057518012
LitVarrs1057518012
Maprs1057518012
PheGenIrs1057518012
Biobankrs1057518012
1000 genomesrs1057518012
hgdprs1057518012
ensemblrs1057518012
geneviewrs1057518012
scholarrs1057518012
googlers1057518012
pharmgkbrs1057518012
gwascentralrs1057518012
openSNPrs1057518012
23andMers1057518012
SNPshotrs1057518012
SNPdbers1057518012
MSV3drs1057518012
GWAS Ctlgrs1057518012
Max Magnitude0
ClinVar
Risk rs1057518012(-;-)
Alt rs1057518012(-;-)
Reference Rs1057518012(GAGG;GAGG)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene FBN1
CLNDBN not provided
Reversed 1
HGVS NC_000015.9:g.48717584_48717587delCCTC
CLNSRC
CLNACC RCV000414521.1,