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rs863223593

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs863223593(-;AATGGC)
Make rs863223593(AATGGC;AATGGC)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position128393249
GeneFBN2
is asnp
is mentioned by
dbSNPrs863223593
dbSNP (classic)rs863223593
ClinGenrs863223593
ebirs863223593
HLIrs863223593
Exacrs863223593
Gnomadrs863223593
Varsomers863223593
LitVarrs863223593
Maprs863223593
PheGenIrs863223593
Biobankrs863223593
1000 genomesrs863223593
hgdprs863223593
ensemblrs863223593
geneviewrs863223593
scholarrs863223593
googlers863223593
pharmgkbrs863223593
gwascentralrs863223593
openSNPrs863223593
23andMers863223593
SNPshotrs863223593
SNPdbers863223593
MSV3drs863223593
GWAS Ctlgrs863223593
Max Magnitude0
ClinVar
Risk rs863223593(AATGGC;AATGGC)
Alt rs863223593(AATGGC;AATGGC)
Reference Rs863223593(-;-)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene FBN2
CLNDBN not provided
Reversed 1
HGVS NC_000005.9:g.127728943_127728948dupGCCATT
CLNSRC
CLNACC RCV000199832.1,