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rs797044469

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCAGA;CCAGA) 0 common in clinvar
Make rs797044469(-;-)
Make rs797044469(-;AGACC)
Make rs797044469(AGACC;AGACC)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position72228379
GeneINPPL1
is asnp
is mentioned by
dbSNPrs797044469
ClinGenrs797044469
ebirs797044469
HLIrs797044469
Exacrs797044469
Varsomers797044469
Maprs797044469
PheGenIrs797044469
hapmaprs797044469
1000 genomesrs797044469
hgdprs797044469
ensemblrs797044469
gopubmedrs797044469
geneviewrs797044469
scholarrs797044469
googlers797044469
pharmgkbrs797044469
gwascentralrs797044469
openSNPrs797044469
23andMers797044469
23andMe allrs797044469
SNP Nexus

SNPshotrs797044469
SNPdbers797044469
MSV3drs797044469
GWAS Ctlgrs797044469
Max Magnitude0
ClinVar
Risk rs797044469(-;-)
Alt rs797044469(-;-)
Reference Rs797044469(CCAGA;CCAGA)
Significance Pathogenic
Disease Opsismodysplasia
Variation info
Gene INPPL1
CLNDBN Opsismodysplasia
Reversed 0
HGVS NC_000011.9:g.71939423_71939427delAGACC
CLNSRC OMIM Allelic Variant
CLNACC RCV000032674.4,