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rs267606799

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606799(G;T)
Make rs267606799(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48467975
GeneFBN1
is asnp
is mentioned by
dbSNPrs267606799
ebirs267606799
HLIrs267606799
Exacrs267606799
Varsomers267606799
Maprs267606799
PheGenIrs267606799
hapmaprs267606799
1000 genomesrs267606799
hgdprs267606799
ensemblrs267606799
gopubmedrs267606799
geneviewrs267606799
scholarrs267606799
googlers267606799
pharmgkbrs267606799
gwascentralrs267606799
openSNPrs267606799
23andMers267606799
23andMe allrs267606799
SNP Nexus

SNPshotrs267606799
SNPdbers267606799
MSV3drs267606799
GWAS Ctlgrs267606799
Max Magnitude0
ClinVar
Risk rs267606799(C,T;C,T)
Alt rs267606799(C,T;C,T)
Reference rs267606799(G;G)
Significance Pathogenic
Disease Stiff skin syndrome
Variation info
Gene FBN1
CLNDBN Stiff skin syndrome
Reversed 1
HGVS NC_000015.9:g.48760172C>A; NC_000015.9:g.48760172C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017933.28, RCV000017934.28,