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rs193922242

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193922242(A;G)
Make rs193922242(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48412576
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922242
ebirs193922242
HLIrs193922242
Exacrs193922242
Varsomers193922242
Maprs193922242
PheGenIrs193922242
hapmaprs193922242
1000 genomesrs193922242
hgdprs193922242
ensemblrs193922242
gopubmedrs193922242
geneviewrs193922242
scholarrs193922242
googlers193922242
pharmgkbrs193922242
gwascentralrs193922242
openSNPrs193922242
23andMers193922242
23andMe allrs193922242
SNP Nexus

SNPshotrs193922242
SNPdbers193922242
MSV3drs193922242
GWAS Ctlgrs193922242
Max Magnitude0
ClinVar
Risk rs193922242(G;G)
Alt rs193922242(G;G)
Reference rs193922242(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.48704773T>C
CLNSRC ClinVar LabCorp
CLNACC RCV000029789.1, RCV000035286.2,