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rs387906622

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906622(A;G)
Make rs387906622(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48463210
GeneFBN1
is asnp
is mentioned by
dbSNPrs387906622
ebirs387906622
HLIrs387906622
Exacrs387906622
Varsomers387906622
Maprs387906622
PheGenIrs387906622
hapmaprs387906622
1000 genomesrs387906622
hgdprs387906622
ensemblrs387906622
gopubmedrs387906622
geneviewrs387906622
scholarrs387906622
googlers387906622
pharmgkbrs387906622
gwascentralrs387906622
openSNPrs387906622
23andMers387906622
23andMe allrs387906622
SNP Nexus

SNPshotrs387906622
SNPdbers387906622
MSV3drs387906622
GWAS Ctlgrs387906622
Max Magnitude0
ClinVar
Risk rs387906622(G;G)
Alt rs387906622(G;G)
Reference rs387906622(A;A)
Significance Pathogenic
Disease Geleophysic dysplasia 2 Acromicric dysplasia
Variation info
Gene FBN1
CLNDBN Geleophysic dysplasia 2 Acromicric dysplasia
Reversed 1
HGVS NC_000015.9:g.48755407T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022543.27, RCV000022544.27,