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rs267606802

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267606802(A;A)
Make rs267606802(A;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position128335525
GeneFBN2
is asnp
is mentioned by
dbSNPrs267606802
ebirs267606802
HLIrs267606802
Exacrs267606802
Varsomers267606802
Maprs267606802
PheGenIrs267606802
hapmaprs267606802
1000 genomesrs267606802
hgdprs267606802
ensemblrs267606802
gopubmedrs267606802
geneviewrs267606802
scholarrs267606802
googlers267606802
pharmgkbrs267606802
gwascentralrs267606802
openSNPrs267606802
23andMers267606802
23andMe allrs267606802
SNP Nexus

SNPshotrs267606802
SNPdbers267606802
MSV3drs267606802
GWAS Ctlgrs267606802
Max Magnitude0
ClinVar
Risk rs267606802(A;A)
Alt rs267606802(A;A)
Reference rs267606802(T;T)
Significance Pathogenic
Disease Congenital contractural arachnodactyly
Variation info
Gene FBN2
CLNDBN Congenital contractural arachnodactyly
Reversed 1
HGVS NC_000005.9:g.127671217A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000557.2,