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rs655423

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs655423(C;C)
Make rs655423(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position72234616
GeneINPPL1
is asnp
is mentioned by
dbSNPrs655423
dbSNP (classic)rs655423
ClinGenrs655423
ebirs655423
HLIrs655423
Exacrs655423
Gnomadrs655423
Varsomers655423
LitVarrs655423
Maprs655423
PheGenIrs655423
Biobankrs655423
1000 genomesrs655423
hgdprs655423
ensemblrs655423
geneviewrs655423
scholarrs655423
googlers655423
pharmgkbrs655423
gwascentralrs655423
openSNPrs655423
23andMers655423
SNPshotrs655423
SNPdbers655423
MSV3drs655423
GWAS Ctlgrs655423
Max Magnitude0
? (C;C) (C;G) (G;G) 28


ClinVar
Risk rs655423(A;A) rs655423(C;C)
Alt rs655423(A;A) rs655423(C;C)
Reference Rs655423(G;G)
Significance Pathogenic
Disease Opsismodysplasia
Variation info
Gene INPPL1
CLNDBN Opsismodysplasia
Reversed 0
HGVS NC_000011.9:g.71945660G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032672.5, RCV000224914.1,