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rs587776863

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587776863(-;-)
Make rs587776863(-;TGT)
Make rs587776863(TGT;TGT)
ReferenceGRCh38 38.1/142
Chromosome15
Position48463104
GeneFBN1
is asnp
is mentioned by
dbSNPrs587776863
ebirs587776863
HLIrs587776863
Exacrs587776863
Varsomers587776863
Maprs587776863
PheGenIrs587776863
hapmaprs587776863
1000 genomesrs587776863
hgdprs587776863
ensemblrs587776863
gopubmedrs587776863
geneviewrs587776863
scholarrs587776863
googlers587776863
pharmgkbrs587776863
gwascentralrs587776863
openSNPrs587776863
23andMers587776863
23andMe allrs587776863
SNP Nexus

SNPshotrs587776863
SNPdbers587776863
MSV3drs587776863
GWAS Ctlgrs587776863
Max Magnitude0
ClinVar
Risk rs587776863(TGT;TGT)
Alt rs587776863(TGT;TGT)
Reference rs587776863(;)
Significance Pathogenic
Disease Acromicric dysplasia
Variation info
Gene FBN1
CLNDBN Acromicric dysplasia
Reversed 0
HGVS NC_000015.9:g.48755299_48755301dupTGT
CLNSRC OMIM Allelic Variant
CLNACC RCV000022551.27,