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rs587776519

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587776519(C;C)
Make rs587776519(C;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position128335592
GeneFBN2
is asnp
is mentioned by
dbSNPrs587776519
ebirs587776519
HLIrs587776519
Exacrs587776519
Varsomers587776519
Maprs587776519
PheGenIrs587776519
hapmaprs587776519
1000 genomesrs587776519
hgdprs587776519
ensemblrs587776519
gopubmedrs587776519
geneviewrs587776519
scholarrs587776519
googlers587776519
pharmgkbrs587776519
gwascentralrs587776519
openSNPrs587776519
23andMers587776519
23andMe allrs587776519
SNP Nexus

SNPshotrs587776519
SNPdbers587776519
MSV3drs587776519
GWAS Ctlgrs587776519
Max Magnitude0
ClinVar
Risk rs587776519(C,T;C,T)
Alt rs587776519(C,T;C,T)
Reference rs587776519(A;A)
Significance Pathogenic
Disease Congenital contractural arachnodactyly
Variation info
Gene FBN2
CLNDBN Congenital contractural arachnodactyly
Reversed 1
HGVS NC_000005.9:g.127671284T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000552.2,