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rs119103289

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs119103289(A;A)
Make rs119103289(A;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position118110690
GeneEXT1
is asnp
is mentioned by
dbSNPrs119103289
ebirs119103289
HLIrs119103289
Exacrs119103289
Varsomers119103289
Maprs119103289
PheGenIrs119103289
hapmaprs119103289
1000 genomesrs119103289
hgdprs119103289
ensemblrs119103289
gopubmedrs119103289
geneviewrs119103289
scholarrs119103289
googlers119103289
pharmgkbrs119103289
gwascentralrs119103289
openSNPrs119103289
23andMers119103289
23andMe allrs119103289
SNP Nexus

SNPshotrs119103289
SNPdbers119103289
MSV3drs119103289
GWAS Ctlgrs119103289
Max Magnitude0
OMIM608177
Desc
Variant0008
Relatedalso
ClinVar
Risk rs119103289(A;A)
Alt rs119103289(A;A)
Reference rs119103289(C;C)
Significance Pathogenic
Disease Multiple congenital exostosis
Variation info
Gene EXT1
CLNDBN Multiple congenital exostosis
Reversed 1
HGVS NC_000008.10:g.119122929G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002605.2,