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rs267606786

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606786(C;T)
Make rs267606786(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position44124817
GeneEXT2
is asnp
is mentioned by
dbSNPrs267606786
dbSNP (classic)rs267606786
ClinGenrs267606786
ebirs267606786
HLIrs267606786
Exacrs267606786
Gnomadrs267606786
Varsomers267606786
LitVarrs267606786
Maprs267606786
PheGenIrs267606786
Biobankrs267606786
1000 genomesrs267606786
hgdprs267606786
ensemblrs267606786
geneviewrs267606786
scholarrs267606786
googlers267606786
pharmgkbrs267606786
gwascentralrs267606786
openSNPrs267606786
23andMers267606786
SNPshotrs267606786
SNPdbers267606786
MSV3drs267606786
GWAS Ctlgrs267606786
Max Magnitude0
ClinVar
Risk rs267606786(T;T)
Alt rs267606786(T;T)
Reference Rs267606786(C;C)
Significance Pathogenic
Disease Multiple exostoses type 2
Variation info
Gene EXT2
CLNDBN Multiple exostoses type 2
Reversed 0
HGVS NC_000011.9:g.44146367C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002580.3,