Have questions? Visit https://www.reddit.com/r/SNPedia

rs587777290

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777290(C;G)
ReferenceGRCh38 38.1/142
Chromosome14
Position94769660
GeneGSC
is asnp
is mentioned by
dbSNPrs587777290
ebirs587777290
HLIrs587777290
Exacrs587777290
Varsomers587777290
Maprs587777290
PheGenIrs587777290
hapmaprs587777290
1000 genomesrs587777290
hgdprs587777290
ensemblrs587777290
gopubmedrs587777290
geneviewrs587777290
scholarrs587777290
googlers587777290
pharmgkbrs587777290
gwascentralrs587777290
openSNPrs587777290
23andMers587777290
23andMe allrs587777290
SNP Nexus

SNPshotrs587777290
SNPdbers587777290
MSV3drs587777290
GWAS Ctlgrs587777290
Max Magnitude0
ClinVar
Risk rs587777290(C;C)
Alt rs587777290(C;C)
Reference rs587777290(G;G)
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.95235997C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000114413.2,