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rs387906623

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906623(A;A)
Make rs387906623(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48460258
GeneFBN1
is asnp
is mentioned by
dbSNPrs387906623
ebirs387906623
HLIrs387906623
Exacrs387906623
Varsomers387906623
Maprs387906623
PheGenIrs387906623
hapmaprs387906623
1000 genomesrs387906623
hgdprs387906623
ensemblrs387906623
gopubmedrs387906623
geneviewrs387906623
scholarrs387906623
googlers387906623
pharmgkbrs387906623
gwascentralrs387906623
openSNPrs387906623
23andMers387906623
23andMe allrs387906623
SNP Nexus

SNPshotrs387906623
SNPdbers387906623
MSV3drs387906623
GWAS Ctlgrs387906623
Max Magnitude0
ClinVar
Risk rs387906623(A;A)
Alt rs387906623(A;A)
Reference rs387906623(G;G)
Significance Pathogenic
Disease Geleophysic dysplasia 2
Variation info
Gene FBN1
CLNDBN Geleophysic dysplasia 2
Reversed 1
HGVS NC_000015.9:g.48752455C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022545.24,