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rs193922181

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs193922181(-;-)
Make rs193922181(-;TGTAATGCG)
Make rs193922181(TGTAATGCG;TGTAATGCG)
ReferenceGRCh38 38.1/141
Chromosome15
Position48510080
GeneFBN1
is asnp
is mentioned by
dbSNPrs193922181
ebirs193922181
HLIrs193922181
Exacrs193922181
Varsomers193922181
Maprs193922181
PheGenIrs193922181
hapmaprs193922181
1000 genomesrs193922181
hgdprs193922181
ensemblrs193922181
gopubmedrs193922181
geneviewrs193922181
scholarrs193922181
googlers193922181
pharmgkbrs193922181
gwascentralrs193922181
openSNPrs193922181
23andMers193922181
23andMe allrs193922181
SNP Nexus

SNPshotrs193922181
SNPdbers193922181
MSV3drs193922181
GWAS Ctlgrs193922181
Max Magnitude0
ClinVar
Risk rs193922181(TGTAATGCG;TGTAATGCG)
Alt rs193922181(TGTAATGCG;TGTAATGCG)
Reference rs193922181(;)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48802278_48802286dupCGCATTACA
CLNSRC ClinVar
CLNACC RCV000029697.1,