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rs137852828

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852828(G;T)
Make rs137852828(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position128338980
GeneFBN2
is asnp
is mentioned by
dbSNPrs137852828
ebirs137852828
HLIrs137852828
Exacrs137852828
Varsomers137852828
Maprs137852828
PheGenIrs137852828
hapmaprs137852828
1000 genomesrs137852828
hgdprs137852828
ensemblrs137852828
gopubmedrs137852828
geneviewrs137852828
scholarrs137852828
googlers137852828
pharmgkbrs137852828
gwascentralrs137852828
openSNPrs137852828
23andMers137852828
23andMe allrs137852828
SNP Nexus

SNPshotrs137852828
SNPdbers137852828
MSV3drs137852828
GWAS Ctlgrs137852828
Max Magnitude0
OMIM612570
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137852828(T;T)
Alt rs137852828(T;T)
Reference rs137852828(G;G)
Significance Pathogenic
Disease Congenital contractural arachnodactyly
Variation info
Gene FBN2
CLNDBN Congenital contractural arachnodactyly
Reversed 1
HGVS NC_000005.9:g.127674672C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000555.3,