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rs387906624

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906624(A;A)
Make rs387906624(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48463124
GeneFBN1
is asnp
is mentioned by
dbSNPrs387906624
ebirs387906624
HLIrs387906624
Exacrs387906624
Varsomers387906624
Maprs387906624
PheGenIrs387906624
hapmaprs387906624
1000 genomesrs387906624
hgdprs387906624
ensemblrs387906624
gopubmedrs387906624
geneviewrs387906624
scholarrs387906624
googlers387906624
pharmgkbrs387906624
gwascentralrs387906624
openSNPrs387906624
23andMers387906624
23andMe allrs387906624
SNP Nexus

SNPshotrs387906624
SNPdbers387906624
MSV3drs387906624
GWAS Ctlgrs387906624
Max Magnitude0
ClinVar
Risk rs387906624(A;A)
Alt rs387906624(A;A)
Reference rs387906624(G;G)
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.48755321C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022546.23, RCV000022547.27,