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rs878853123

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs878853123(C;T)
Make rs878853123(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position72233471
GeneINPPL1
is asnp
is mentioned by
dbSNPrs878853123
dbSNP (classic)rs878853123
ClinGenrs878853123
ebirs878853123
HLIrs878853123
Exacrs878853123
Gnomadrs878853123
Varsomers878853123
LitVarrs878853123
Maprs878853123
PheGenIrs878853123
Biobankrs878853123
1000 genomesrs878853123
hgdprs878853123
ensemblrs878853123
geneviewrs878853123
scholarrs878853123
googlers878853123
pharmgkbrs878853123
gwascentralrs878853123
openSNPrs878853123
23andMers878853123
SNPshotrs878853123
SNPdbers878853123
MSV3drs878853123
GWAS Ctlgrs878853123
Max Magnitude0
ClinVar
Risk rs878853123(T;T)
Alt rs878853123(T;T)
Reference Rs878853123(C;C)
Significance Pathogenic
Disease Opsismodysplasia
Variation info
Gene INPPL1
CLNDBN Opsismodysplasia
Reversed 0
HGVS NC_000011.9:g.71944515C>T
CLNSRC
CLNACC RCV000224467.1,