Have questions? Visit https://www.reddit.com/r/SNPedia

rs137852827

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852827(C;C)
Make rs137852827(C;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position128344385
GeneFBN2
is asnp
is mentioned by
dbSNPrs137852827
ebirs137852827
HLIrs137852827
Exacrs137852827
Varsomers137852827
Maprs137852827
PheGenIrs137852827
hapmaprs137852827
1000 genomesrs137852827
hgdprs137852827
ensemblrs137852827
gopubmedrs137852827
geneviewrs137852827
scholarrs137852827
googlers137852827
pharmgkbrs137852827
gwascentralrs137852827
openSNPrs137852827
23andMers137852827
23andMe allrs137852827
SNP Nexus

SNPshotrs137852827
SNPdbers137852827
MSV3drs137852827
GWAS Ctlgrs137852827
Max Magnitude0
OMIM612570
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852827(C;C)
Alt rs137852827(C;C)
Reference rs137852827(G;G)
Significance Pathogenic
Disease Congenital contractural arachnodactyly
Variation info
Gene FBN2
CLNDBN Congenital contractural arachnodactyly
Reversed 1
HGVS NC_000005.9:g.127680077C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000554.2,