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rs587777289

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777289(A;A)
Make rs587777289(A;G)
ReferenceGRCh38 38.1/142
Chromosome14
Position94769173
GeneGSC
is asnp
is mentioned by
dbSNPrs587777289
ebirs587777289
HLIrs587777289
Exacrs587777289
Varsomers587777289
Maprs587777289
PheGenIrs587777289
hapmaprs587777289
1000 genomesrs587777289
hgdprs587777289
ensemblrs587777289
gopubmedrs587777289
geneviewrs587777289
scholarrs587777289
googlers587777289
pharmgkbrs587777289
gwascentralrs587777289
openSNPrs587777289
23andMers587777289
23andMe allrs587777289
SNP Nexus

SNPshotrs587777289
SNPdbers587777289
MSV3drs587777289
GWAS Ctlgrs587777289
Max Magnitude0
ClinVar
Risk rs587777289(A,G;A,G)
Alt rs587777289(A,G;A,G)
Reference rs587777289(C;C)
Significance Pathogenic
Disease Short stature
Variation info
Gene GSC
CLNDBN Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities
Reversed 1
HGVS NC_000014.8:g.95235510G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000114412.2,