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rs878853120

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs878853120(C;C)
Make rs878853120(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position72229558
GeneINPPL1
is asnp
is mentioned by
dbSNPrs878853120
dbSNP (classic)rs878853120
ClinGenrs878853120
ebirs878853120
HLIrs878853120
Exacrs878853120
Gnomadrs878853120
Varsomers878853120
LitVarrs878853120
Maprs878853120
PheGenIrs878853120
Biobankrs878853120
1000 genomesrs878853120
hgdprs878853120
ensemblrs878853120
geneviewrs878853120
scholarrs878853120
googlers878853120
pharmgkbrs878853120
gwascentralrs878853120
openSNPrs878853120
23andMers878853120
SNPshotrs878853120
SNPdbers878853120
MSV3drs878853120
GWAS Ctlgrs878853120
Max Magnitude0
ClinVar
Risk rs878853120(C;C)
Alt rs878853120(C;C)
Reference Rs878853120(G;G)
Significance Pathogenic
Disease Opsismodysplasia
Variation info
Gene INPPL1
CLNDBN Opsismodysplasia
Reversed 0
HGVS NC_000011.9:g.71940602G>C
CLNSRC
CLNACC RCV000224420.1,