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rs397514509

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514509(A;A)
Make rs397514509(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position72229116
GeneINPPL1
is asnp
is mentioned by
dbSNPrs397514509
ebirs397514509
HLIrs397514509
Exacrs397514509
Varsomers397514509
Maprs397514509
PheGenIrs397514509
hapmaprs397514509
1000 genomesrs397514509
hgdprs397514509
ensemblrs397514509
gopubmedrs397514509
geneviewrs397514509
scholarrs397514509
googlers397514509
pharmgkbrs397514509
gwascentralrs397514509
openSNPrs397514509
23andMers397514509
23andMe allrs397514509
SNP Nexus

SNPshotrs397514509
SNPdbers397514509
MSV3drs397514509
GWAS Ctlgrs397514509
Max Magnitude0
ClinVar
Risk rs397514509(A,G,T;A,G,T)
Alt rs397514509(A,G,T;A,G,T)
Reference rs397514509(C;C)
Significance Pathogenic
Disease Opsismodysplasia
Variation info
Gene INPPL1
CLNDBN Opsismodysplasia
Reversed 0
HGVS NC_000011.9:g.71940160C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032670.5,