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rs267607217

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607217(C;T)
Make rs267607217(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position65239970
GeneLEMD3
is asnp
is mentioned by
dbSNPrs267607217
ebirs267607217
HLIrs267607217
Exacrs267607217
Varsomers267607217
Maprs267607217
PheGenIrs267607217
hapmaprs267607217
1000 genomesrs267607217
hgdprs267607217
ensemblrs267607217
gopubmedrs267607217
geneviewrs267607217
scholarrs267607217
googlers267607217
pharmgkbrs267607217
gwascentralrs267607217
openSNPrs267607217
23andMers267607217
23andMe allrs267607217
SNP Nexus

SNPshotrs267607217
SNPdbers267607217
MSV3drs267607217
GWAS Ctlgrs267607217
Max Magnitude0
ClinVar
Risk rs267607217(T;T)
Alt rs267607217(T;T)
Reference rs267607217(C;C)
Significance Pathogenic
Disease Osteopoikilosis with melorheostosis Dermatofibrosis lenticularis disseminata
Variation info
Gene LEMD3
CLNDBN Osteopoikilosis with melorheostosis Dermatofibrosis lenticularis disseminata, isolated
Reversed 0
HGVS NC_000012.11:g.65633750C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002885.2, RCV000002886.2,