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rs1060503498

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060503498(A;A)
Make rs1060503498(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome5
Position128332911
GeneFBN2
is asnp
is mentioned by
dbSNPrs1060503498
dbSNP (old)rs1060503498
ClinGenrs1060503498
ebirs1060503498
HLIrs1060503498
Exacrs1060503498
Gnomadrs1060503498
Varsomers1060503498
Maprs1060503498
PheGenIrs1060503498
Biobankrs1060503498
1000 genomesrs1060503498
hgdprs1060503498
ensemblrs1060503498
gopubmedrs1060503498
geneviewrs1060503498
scholarrs1060503498
googlers1060503498
pharmgkbrs1060503498
gwascentralrs1060503498
openSNPrs1060503498
23andMers1060503498
23andMe allrs1060503498
SNPshotrs1060503498
SNPdbers1060503498
MSV3drs1060503498
GWAS Ctlgrs1060503498
Max Magnitude0
ClinVar
Risk rs1060503498(A;A)
Alt rs1060503498(A;A)
Reference Rs1060503498(G;G)
Significance Probable-Pathogenic
Disease Congenital contractural arachnodactyly
Variation info
Gene FBN2
CLNDBN Congenital contractural arachnodactyly
Reversed 1
HGVS NC_000005.9:g.127668603C>T
CLNSRC
CLNACC RCV000459072.1,