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rs397514512

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514512(A;A)
Make rs397514512(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position72233696
GeneINPPL1
is asnp
is mentioned by
dbSNPrs397514512
ebirs397514512
HLIrs397514512
Exacrs397514512
Varsomers397514512
Maprs397514512
PheGenIrs397514512
hapmaprs397514512
1000 genomesrs397514512
hgdprs397514512
ensemblrs397514512
gopubmedrs397514512
geneviewrs397514512
scholarrs397514512
googlers397514512
pharmgkbrs397514512
gwascentralrs397514512
openSNPrs397514512
23andMers397514512
23andMe allrs397514512
SNP Nexus

SNPshotrs397514512
SNPdbers397514512
MSV3drs397514512
GWAS Ctlgrs397514512
Max Magnitude0
ClinVar
Risk rs397514512(A;A)
Alt rs397514512(A;A)
Reference rs397514512(T;T)
Significance Pathogenic
Disease Opsismodysplasia
Variation info
Gene INPPL1
CLNDBN Opsismodysplasia
Reversed 0
HGVS NC_000011.9:g.71944740T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032676.4,