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rs119103288

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs119103288(A;A)
Make rs119103288(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position117837148
GeneEXT1
is asnp
is mentioned by
dbSNPrs119103288
ebirs119103288
HLIrs119103288
Exacrs119103288
Varsomers119103288
Maprs119103288
PheGenIrs119103288
hapmaprs119103288
1000 genomesrs119103288
hgdprs119103288
ensemblrs119103288
gopubmedrs119103288
geneviewrs119103288
scholarrs119103288
googlers119103288
pharmgkbrs119103288
gwascentralrs119103288
openSNPrs119103288
23andMers119103288
23andMe allrs119103288
SNP Nexus

SNPshotrs119103288
SNPdbers119103288
MSV3drs119103288
GWAS Ctlgrs119103288
Max Magnitude0
OMIM608177
Desc
Variant0007
Relatedalso
ClinVar
Risk rs119103288(A;A)
Alt rs119103288(A;A)
Reference rs119103288(G;G)
Significance Pathogenic
Disease Multiple congenital exostosis
Variation info
Gene EXT1
CLNDBN Multiple congenital exostosis
Reversed 1
HGVS NC_000008.10:g.118849387C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002604.2,