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rs397514510

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514510(C;T)
Make rs397514510(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position72233098
GeneINPPL1
is asnp
is mentioned by
dbSNPrs397514510
dbSNP (classic)rs397514510
ClinGenrs397514510
ebirs397514510
HLIrs397514510
Exacrs397514510
Gnomadrs397514510
Varsomers397514510
LitVarrs397514510
Maprs397514510
PheGenIrs397514510
Biobankrs397514510
1000 genomesrs397514510
hgdprs397514510
ensemblrs397514510
geneviewrs397514510
scholarrs397514510
googlers397514510
pharmgkbrs397514510
gwascentralrs397514510
openSNPrs397514510
23andMers397514510
SNPshotrs397514510
SNPdbers397514510
MSV3drs397514510
GWAS Ctlgrs397514510
Max Magnitude0
ClinVar
Risk rs397514510(T;T)
Alt rs397514510(T;T)
Reference Rs397514510(C;C)
Significance Pathogenic
Disease Opsismodysplasia
Variation info
Gene INPPL1
CLNDBN Opsismodysplasia
Reversed 0
HGVS NC_000011.9:g.71944142C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000032673.5,