Have questions? Visit https://www.reddit.com/r/SNPedia

rs587776518

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587776518(A;T)
ReferenceGRCh38 38.1/142
Chromosome5
Position128328823
GeneFBN2
is asnp
is mentioned by
dbSNPrs587776518
ebirs587776518
HLIrs587776518
Exacrs587776518
Varsomers587776518
Maprs587776518
PheGenIrs587776518
hapmaprs587776518
1000 genomesrs587776518
hgdprs587776518
ensemblrs587776518
gopubmedrs587776518
geneviewrs587776518
scholarrs587776518
googlers587776518
pharmgkbrs587776518
gwascentralrs587776518
openSNPrs587776518
23andMers587776518
23andMe allrs587776518
SNP Nexus

SNPshotrs587776518
SNPdbers587776518
MSV3drs587776518
GWAS Ctlgrs587776518
Max Magnitude0
ClinVar
Risk rs587776518(T;T)
Alt rs587776518(T;T)
Reference rs587776518(A;A)
Significance Pathogenic
Disease Congenital contractural arachnodactyly
Variation info
Gene FBN2
CLNDBN Congenital contractural arachnodactyly
Reversed 1
HGVS NC_000005.9:g.127664515T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000551.3,