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rs587777288

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(GCCGGGAGGCCCGCGCC;GCCGGGAGGCCCGCGCC) 0 common in clinvar
(GGCGCGGGCCTCCCGGC;GGCGCGGGCCTCCCGGC) 0 common in clinvar
(GGCGCGGGCCTCCCGGCC;GGCGCGGGCCTCCCGGCC) 0 common in clinvar
Make rs587777288(-;-)
Make rs587777288(-;GCCGGGAGGCCCGCGCC)
ReferenceGRCh38 38.1/142
Chromosome14
Position94769804
GeneDIGIT, GSC
is asnp
is mentioned by
dbSNPrs587777288
dbSNP (old)rs587777288
ClinGenrs587777288
ebirs587777288
HLIrs587777288
Exacrs587777288
Gnomadrs587777288
Varsomers587777288
Maprs587777288
PheGenIrs587777288
Biobankrs587777288
1000 genomesrs587777288
hgdprs587777288
ensemblrs587777288
gopubmedrs587777288
geneviewrs587777288
scholarrs587777288
googlers587777288
pharmgkbrs587777288
gwascentralrs587777288
openSNPrs587777288
23andMers587777288
23andMe allrs587777288
SNP Nexus

SNPshotrs587777288
SNPdbers587777288
MSV3drs587777288
GWAS Ctlgrs587777288
Max Magnitude0
ClinVar
Risk Rs587777288(GCCGGGAGGCCCGCGCC;GCCGGGAGGCCCGCGCC) rs587777288(-;-)
Alt Rs587777288(GCCGGGAGGCCCGCGCC;GCCGGGAGGCCCGCGCC) rs587777288(-;-)
Reference Rs587777288(GGCGCGGGCCTCCCGGC;GGCGCGGGCCTCCCGGC)
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.95236141_95236157del17
CLNSRC OMIM Allelic Variant
CLNACC RCV000114411.2,