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rs137852825

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Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852825(A;A)
Make rs137852825(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position128335544
GeneFBN2
is asnp
is mentioned by
dbSNPrs137852825
ebirs137852825
HLIrs137852825
Exacrs137852825
Varsomers137852825
Maprs137852825
PheGenIrs137852825
hapmaprs137852825
1000 genomesrs137852825
hgdprs137852825
ensemblrs137852825
gopubmedrs137852825
geneviewrs137852825
scholarrs137852825
googlers137852825
pharmgkbrs137852825
gwascentralrs137852825
openSNPrs137852825
23andMers137852825
23andMe allrs137852825
SNP Nexus

SNPshotrs137852825
SNPdbers137852825
MSV3drs137852825
GWAS Ctlgrs137852825
Max Magnitude0
OMIM612570
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852825(A;A)
Alt rs137852825(A;A)
Reference rs137852825(G;G)
Significance Pathogenic
Disease Congenital contractural arachnodactyly
Variation info
Gene FBN2
CLNDBN Congenital contractural arachnodactyly
Reversed 1
HGVS NC_000005.9:g.127671236C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000548.2,