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rs137852826

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852826(A;A)
Make rs137852826(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position128395182
GeneFBN2
is asnp
is mentioned by
dbSNPrs137852826
ebirs137852826
HLIrs137852826
Exacrs137852826
Varsomers137852826
Maprs137852826
PheGenIrs137852826
hapmaprs137852826
1000 genomesrs137852826
hgdprs137852826
ensemblrs137852826
gopubmedrs137852826
geneviewrs137852826
scholarrs137852826
googlers137852826
pharmgkbrs137852826
gwascentralrs137852826
openSNPrs137852826
23andMers137852826
23andMe allrs137852826
SNP Nexus

SNPshotrs137852826
SNPdbers137852826
MSV3drs137852826
GWAS Ctlgrs137852826
Max Magnitude0
OMIM612570
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852826(A;A)
Alt rs137852826(A;A)
Reference rs137852826(G;G)
Significance Pathogenic
Disease Congenital contractural arachnodactyly
Variation info
Gene FBN2
CLNDBN Congenital contractural arachnodactyly
Reversed 1
HGVS NC_000005.9:g.127730875C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000549.1,