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rs267606800

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606800(C;C)
Make rs267606800(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48467994
GeneFBN1
is asnp
is mentioned by
dbSNPrs267606800
ebirs267606800
HLIrs267606800
Exacrs267606800
Varsomers267606800
Maprs267606800
PheGenIrs267606800
hapmaprs267606800
1000 genomesrs267606800
hgdprs267606800
ensemblrs267606800
gopubmedrs267606800
geneviewrs267606800
scholarrs267606800
googlers267606800
pharmgkbrs267606800
gwascentralrs267606800
openSNPrs267606800
23andMers267606800
23andMe allrs267606800
SNP Nexus

SNPshotrs267606800
SNPdbers267606800
MSV3drs267606800
GWAS Ctlgrs267606800
Max Magnitude0
ClinVar
Risk rs267606800(C;C)
Alt rs267606800(C;C)
Reference rs267606800(G;G)
Significance Pathogenic
Disease Stiff skin syndrome
Variation info
Gene FBN1
CLNDBN Stiff skin syndrome
Reversed 1
HGVS NC_000015.9:g.48760191C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000017935.28,