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rs387906626

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906626(A;G)
Make rs387906626(G;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48463207
GeneFBN1
is asnp
is mentioned by
dbSNPrs387906626
ebirs387906626
HLIrs387906626
Exacrs387906626
Varsomers387906626
Maprs387906626
PheGenIrs387906626
hapmaprs387906626
1000 genomesrs387906626
hgdprs387906626
ensemblrs387906626
gopubmedrs387906626
geneviewrs387906626
scholarrs387906626
googlers387906626
pharmgkbrs387906626
gwascentralrs387906626
openSNPrs387906626
23andMers387906626
23andMe allrs387906626
SNP Nexus

SNPshotrs387906626
SNPdbers387906626
MSV3drs387906626
GWAS Ctlgrs387906626
Max Magnitude0
ClinVar
Risk rs387906626(G;G)
Alt rs387906626(G;G)
Reference Rs387906626(A;A)
Significance Pathogenic
Disease Acromicric dysplasia
Variation info
Gene FBN1
CLNDBN Acromicric dysplasia
Reversed 1
HGVS NC_000015.9:g.48755404T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022550.25,