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rs193922214

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922214(A;G)
Make rs193922214(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48448887
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922214
ebirs193922214
HLIrs193922214
Exacrs193922214
Varsomers193922214
Maprs193922214
PheGenIrs193922214
hapmaprs193922214
1000 genomesrs193922214
hgdprs193922214
ensemblrs193922214
gopubmedrs193922214
geneviewrs193922214
scholarrs193922214
googlers193922214
pharmgkbrs193922214
gwascentralrs193922214
openSNPrs193922214
23andMers193922214
23andMe allrs193922214
SNP Nexus

SNPshotrs193922214
SNPdbers193922214
MSV3drs193922214
GWAS Ctlgrs193922214
Max Magnitude0
ClinVar
Risk rs193922214(G;G)
Alt rs193922214(G;G)
Reference rs193922214(A;A)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48741084T>C
CLNSRC ClinVar LabCorp
CLNACC RCV000029752.1,