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rs119103287

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119103287(G;T)
Make rs119103287(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position117837145
GeneEXT1
is asnp
is mentioned by
dbSNPrs119103287
ebirs119103287
HLIrs119103287
Exacrs119103287
Varsomers119103287
Maprs119103287
PheGenIrs119103287
hapmaprs119103287
1000 genomesrs119103287
hgdprs119103287
ensemblrs119103287
gopubmedrs119103287
geneviewrs119103287
scholarrs119103287
googlers119103287
pharmgkbrs119103287
gwascentralrs119103287
openSNPrs119103287
23andMers119103287
23andMe allrs119103287
SNP Nexus

SNPshotrs119103287
SNPdbers119103287
MSV3drs119103287
GWAS Ctlgrs119103287
Max Magnitude0
OMIM608177
Desc
Variant0004
Relatedalso
ClinVar
Risk rs119103287(A,T;A,T)
Alt rs119103287(A,T;A,T)
Reference rs119103287(G;G)
Significance Pathogenic
Disease Multiple congenital exostosis
Variation info
Gene EXT1
CLNDBN Multiple congenital exostosis
Reversed 1
HGVS NC_000008.10:g.118849384C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002601.2,