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rs869025428

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs869025428(A;T)
Make rs869025428(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome5
Position128339061
GeneFBN2
is asnp
is mentioned by
dbSNPrs869025428
ebirs869025428
HLIrs869025428
Exacrs869025428
Varsomers869025428
Maprs869025428
PheGenIrs869025428
hapmaprs869025428
1000 genomesrs869025428
hgdprs869025428
ensemblrs869025428
gopubmedrs869025428
geneviewrs869025428
scholarrs869025428
googlers869025428
pharmgkbrs869025428
gwascentralrs869025428
openSNPrs869025428
23andMers869025428
23andMe allrs869025428
SNP Nexus

SNPshotrs869025428
SNPdbers869025428
MSV3drs869025428
GWAS Ctlgrs869025428
Max Magnitude0
ClinVar
Risk rs869025428(T;T)
Alt rs869025428(T;T)
Reference rs869025428(A;A)
Significance Probable-Pathogenic
Disease Congenital contractural arachnodactyly
Variation info
Gene FBN2
CLNDBN Congenital contractural arachnodactyly
Reversed 1
HGVS NC_000005.9:g.127674753T>A
CLNSRC
CLNACC RCV000208190.1,