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rs797044468

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs797044468(-;-)
Make rs797044468(-;A)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position72229677
GeneINPPL1
is asnp
is mentioned by
dbSNPrs797044468
dbSNP (classic)rs797044468
ClinGenrs797044468
ebirs797044468
HLIrs797044468
Exacrs797044468
Gnomadrs797044468
Varsomers797044468
LitVarrs797044468
Maprs797044468
PheGenIrs797044468
Biobankrs797044468
1000 genomesrs797044468
hgdprs797044468
ensemblrs797044468
geneviewrs797044468
scholarrs797044468
googlers797044468
pharmgkbrs797044468
gwascentralrs797044468
openSNPrs797044468
23andMers797044468
SNPshotrs797044468
SNPdbers797044468
MSV3drs797044468
GWAS Ctlgrs797044468
Max Magnitude0
ClinVar
Risk rs797044468(-;-)
Alt rs797044468(-;-)
Reference Rs797044468(A;A)
Significance Pathogenic
Disease Opsismodysplasia
Variation info
Gene INPPL1
CLNDBN Opsismodysplasia
Reversed 0
HGVS NC_000011.9:g.71940721delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000032671.6,