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rs1085307066

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome5
Position128274648
GeneFBN2
is asnp
is mentioned by
dbSNPrs1085307066
dbSNP (old)rs1085307066
ClinGenrs1085307066
ebirs1085307066
HLIrs1085307066
Exacrs1085307066
Gnomadrs1085307066
Varsomers1085307066
LitVarrs1085307066
Maprs1085307066
PheGenIrs1085307066
Biobankrs1085307066
1000 genomesrs1085307066
hgdprs1085307066
ensemblrs1085307066
gopubmedrs1085307066
geneviewrs1085307066
scholarrs1085307066
googlers1085307066
pharmgkbrs1085307066
gwascentralrs1085307066
openSNPrs1085307066
23andMers1085307066
23andMe allrs1085307066
SNPshotrs1085307066
SNPdbers1085307066
MSV3drs1085307066
GWAS Ctlgrs1085307066
Max Magnitude0
ClinVar
Risk rs1085307066(T;T)
Alt rs1085307066(T;T)
Reference Rs1085307066(C;C)
Significance Probable-Pathogenic
Disease Congenital contractural arachnodactyly
Variation info
Gene FBN2
CLNDBN Congenital contractural arachnodactyly
Reversed 1
HGVS NC_000005.9:g.127610340G>A
CLNSRC
CLNACC RCV000490469.1,