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rs28931602

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28931602(G;G)
Make rs28931602(G;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position128335543
GeneFBN2
is asnp
is mentioned by
dbSNPrs28931602
ebirs28931602
HLIrs28931602
Exacrs28931602
Varsomers28931602
Maprs28931602
PheGenIrs28931602
hapmaprs28931602
1000 genomesrs28931602
hgdprs28931602
ensemblrs28931602
gopubmedrs28931602
geneviewrs28931602
scholarrs28931602
googlers28931602
pharmgkbrs28931602
gwascentralrs28931602
openSNPrs28931602
23andMers28931602
23andMe allrs28931602
SNP Nexus

SNPshotrs28931602
SNPdbers28931602
MSV3drs28931602
GWAS Ctlgrs28931602
Max Magnitude0
OMIM121050
DescCONTRACTURAL ARACHNODACTYLY, CONGENITAL
Variant0009
Relatedalso
OMIM612570
Desc
Variant0009
Relatedalso


ClinVar
Risk rs28931602(G;G)
Alt rs28931602(G;G)
Reference rs28931602(T;T)
Significance Pathogenic
Disease Congenital contractural arachnodactyly
Variation info
Gene FBN2
CLNDBN Congenital contractural arachnodactyly
Reversed 1
HGVS NC_000005.9:g.127671235A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000000556.3,