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rs387906625

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906625(A;G)
Make rs387906625(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48463219
GeneFBN1
is asnp
is mentioned by
dbSNPrs387906625
ebirs387906625
HLIrs387906625
Exacrs387906625
Varsomers387906625
Maprs387906625
PheGenIrs387906625
hapmaprs387906625
1000 genomesrs387906625
hgdprs387906625
ensemblrs387906625
gopubmedrs387906625
geneviewrs387906625
scholarrs387906625
googlers387906625
pharmgkbrs387906625
gwascentralrs387906625
openSNPrs387906625
23andMers387906625
23andMe allrs387906625
SNP Nexus

SNPshotrs387906625
SNPdbers387906625
MSV3drs387906625
GWAS Ctlgrs387906625
Max Magnitude0
ClinVar
Risk rs387906625(G;G)
Alt rs387906625(G;G)
Reference rs387906625(A;A)
Significance Pathogenic
Disease Geleophysic dysplasia 2
Variation info
Gene FBN1
CLNDBN Geleophysic dysplasia 2
Reversed 1
HGVS NC_000015.9:g.48755416T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022548.23,