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rs397514511

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514511(C;T)
Make rs397514511(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position72230799
GeneINPPL1
is asnp
is mentioned by
dbSNPrs397514511
ebirs397514511
HLIrs397514511
Exacrs397514511
Varsomers397514511
Maprs397514511
PheGenIrs397514511
hapmaprs397514511
1000 genomesrs397514511
hgdprs397514511
ensemblrs397514511
gopubmedrs397514511
geneviewrs397514511
scholarrs397514511
googlers397514511
pharmgkbrs397514511
gwascentralrs397514511
openSNPrs397514511
23andMers397514511
23andMe allrs397514511
SNP Nexus

SNPshotrs397514511
SNPdbers397514511
MSV3drs397514511
GWAS Ctlgrs397514511
Max Magnitude0
ClinVar
Risk rs397514511(T;T)
Alt rs397514511(T;T)
Reference rs397514511(C;C)
Significance Pathogenic
Disease Opsismodysplasia
Variation info
Gene INPPL1
CLNDBN Opsismodysplasia
Reversed 0
HGVS NC_000011.9:g.71941843C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032675.4,