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rs1060503511

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060503511(A;A)
Make rs1060503511(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position128330633
GeneFBN2
is asnp
is mentioned by
dbSNPrs1060503511
dbSNP (old)rs1060503511
ClinGenrs1060503511
ebirs1060503511
HLIrs1060503511
Exacrs1060503511
Gnomadrs1060503511
Varsomers1060503511
Maprs1060503511
PheGenIrs1060503511
Biobankrs1060503511
1000 genomesrs1060503511
hgdprs1060503511
ensemblrs1060503511
gopubmedrs1060503511
geneviewrs1060503511
scholarrs1060503511
googlers1060503511
pharmgkbrs1060503511
gwascentralrs1060503511
openSNPrs1060503511
23andMers1060503511
23andMe allrs1060503511
SNPshotrs1060503511
SNPdbers1060503511
MSV3drs1060503511
GWAS Ctlgrs1060503511
Max Magnitude0
ClinVar
Risk rs1060503511(A;A)
Alt rs1060503511(A;A)
Reference Rs1060503511(C;C)
Significance Probable-Pathogenic
Disease Congenital contractural arachnodactyly
Variation info
Gene FBN2
CLNDBN Congenital contractural arachnodactyly
Reversed 1
HGVS NC_000005.9:g.127666325G>T
CLNSRC
CLNACC RCV000475898.1,