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rs397514508

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514508(C;T)
Make rs397514508(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position72233099
GeneINPPL1
is asnp
is mentioned by
dbSNPrs397514508
dbSNP (classic)rs397514508
ClinGenrs397514508
ebirs397514508
HLIrs397514508
Exacrs397514508
Gnomadrs397514508
Varsomers397514508
LitVarrs397514508
Maprs397514508
PheGenIrs397514508
Biobankrs397514508
1000 genomesrs397514508
hgdprs397514508
ensemblrs397514508
geneviewrs397514508
scholarrs397514508
googlers397514508
pharmgkbrs397514508
gwascentralrs397514508
openSNPrs397514508
23andMers397514508
SNPshotrs397514508
SNPdbers397514508
MSV3drs397514508
GWAS Ctlgrs397514508
Max Magnitude0
ClinVar
Risk rs397514508(T;T)
Alt rs397514508(T;T)
Reference Rs397514508(C;C)
Significance Pathogenic
Disease Opsismodysplasia
Variation info
Gene INPPL1
CLNDBN Opsismodysplasia
Reversed 0
HGVS NC_000011.9:g.71944143C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032669.6,