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rs119103290

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119103290(C;T)
Make rs119103290(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position117837146
GeneEXT1
is asnp
is mentioned by
dbSNPrs119103290
ebirs119103290
HLIrs119103290
Exacrs119103290
Varsomers119103290
Maprs119103290
PheGenIrs119103290
hapmaprs119103290
1000 genomesrs119103290
hgdprs119103290
ensemblrs119103290
gopubmedrs119103290
geneviewrs119103290
scholarrs119103290
googlers119103290
pharmgkbrs119103290
gwascentralrs119103290
openSNPrs119103290
23andMers119103290
23andMe allrs119103290
SNP Nexus

SNPshotrs119103290
SNPdbers119103290
MSV3drs119103290
GWAS Ctlgrs119103290
Max Magnitude0
OMIM608177
Desc
Variant0009
Relatedalso
ClinVar
Risk rs119103290(T;T)
Alt rs119103290(T;T)
Reference rs119103290(C;C)
Significance Pathogenic
Disease Multiple congenital exostosis
Variation info
Gene EXT1
CLNDBN Multiple congenital exostosis
Reversed 1
HGVS NC_000008.10:g.118849385G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002606.2,