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rs193922200

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922200(A;G)
Make rs193922200(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48487104
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922200
dbSNP (classic)rs193922200
ClinGenrs193922200
ebirs193922200
HLIrs193922200
Exacrs193922200
Gnomadrs193922200
Varsomers193922200
LitVarrs193922200
Maprs193922200
PheGenIrs193922200
Biobankrs193922200
1000 genomesrs193922200
hgdprs193922200
ensemblrs193922200
geneviewrs193922200
scholarrs193922200
googlers193922200
pharmgkbrs193922200
gwascentralrs193922200
openSNPrs193922200
23andMers193922200
SNPshotrs193922200
SNPdbers193922200
MSV3drs193922200
GWAS Ctlgrs193922200
Max Magnitude0
ClinVar
Risk rs193922200(G;G)
Alt rs193922200(G;G)
Reference Rs193922200(A;A)
Significance Probable-Pathogenic
Disease Marfan syndrome not specified
Variation info
Gene FBN1
CLNDBN Marfan syndrome not specified
Reversed 1
HGVS NC_000015.9:g.48779301T>C
CLNSRC ClinVar LabCorp
CLNACC RCV000029728.1, RCV000035176.2,