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rs137854464

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137854464(A;A)
Make rs137854464(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48425483
GeneFBN1
is asnp
is mentioned by
dbSNPrs137854464
ebirs137854464
HLIrs137854464
Exacrs137854464
Varsomers137854464
Maprs137854464
PheGenIrs137854464
hapmaprs137854464
1000 genomesrs137854464
hgdprs137854464
ensemblrs137854464
gopubmedrs137854464
geneviewrs137854464
scholarrs137854464
googlers137854464
pharmgkbrs137854464
gwascentralrs137854464
openSNPrs137854464
23andMers137854464
23andMe allrs137854464
SNP Nexus

SNPshotrs137854464
SNPdbers137854464
MSV3drs137854464
GWAS Ctlgrs137854464
Max Magnitude0
OMIM134797
Desc
Variant0015
Relatedalso
ClinVar
Risk rs137854464(A;A)
Alt rs137854464(A;A)
Reference rs137854464(G;G)
Significance Pathogenic
Disease Ectopia lentis
Variation info
Gene FBN1
CLNDBN Ectopia lentis, isolated, autosomal dominant
Reversed 1
HGVS NC_000015.9:g.48717680C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017899.28,