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rs770888294

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs770888294(A;A)
Make rs770888294(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome6
Position33179077
GeneCOL11A2
is asnp
is mentioned by
dbSNPrs770888294
dbSNP (classic)rs770888294
ClinGenrs770888294
ebirs770888294
HLIrs770888294
Exacrs770888294
Gnomadrs770888294
Varsomers770888294
LitVarrs770888294
Maprs770888294
PheGenIrs770888294
Biobankrs770888294
1000 genomesrs770888294
hgdprs770888294
ensemblrs770888294
geneviewrs770888294
scholarrs770888294
googlers770888294
pharmgkbrs770888294
gwascentralrs770888294
openSNPrs770888294
23andMers770888294
SNPshotrs770888294
SNPdbers770888294
MSV3drs770888294
GWAS Ctlgrs770888294
Max Magnitude0
ClinVar
Risk rs770888294(A;A) rs770888294(T;T)
Alt rs770888294(A;A) rs770888294(T;T)
Reference Rs770888294(C;C)
Significance Probable-Pathogenic
Disease Multiple joint dislocations
Variation info
Gene COL11A2
CLNDBN Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
Reversed 0
HGVS NC_000006.11:g.33146854C>T
CLNSRC
CLNACC RCV000171392.1,