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rs267606801

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267606801(G;G)
Make rs267606801(G;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48467956
GeneFBN1
is asnp
is mentioned by
dbSNPrs267606801
ebirs267606801
HLIrs267606801
Exacrs267606801
Varsomers267606801
Maprs267606801
PheGenIrs267606801
hapmaprs267606801
1000 genomesrs267606801
hgdprs267606801
ensemblrs267606801
gopubmedrs267606801
geneviewrs267606801
scholarrs267606801
googlers267606801
pharmgkbrs267606801
gwascentralrs267606801
openSNPrs267606801
23andMers267606801
23andMe allrs267606801
SNP Nexus

SNPshotrs267606801
SNPdbers267606801
MSV3drs267606801
GWAS Ctlgrs267606801
Max Magnitude0
ClinVar
Risk rs267606801(G;G)
Alt rs267606801(G;G)
Reference rs267606801(T;T)
Significance Pathogenic
Disease Stiff skin syndrome
Variation info
Gene FBN1
CLNDBN Stiff skin syndrome
Reversed 1
HGVS NC_000015.9:g.48760153A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017936.27,