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rs587777456

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTGA;CTGA) 0 common in clinvar
Make rs587777456(-;-)
Make rs587777456(-;TGAC)
Make rs587777456(TGAC;TGAC)
ReferenceGRCh38 38.1/142
Chromosome2
Position120986402
GeneGLI2
is asnp
is mentioned by
dbSNPrs587777456
ebirs587777456
HLIrs587777456
Exacrs587777456
Varsomers587777456
Maprs587777456
PheGenIrs587777456
hapmaprs587777456
1000 genomesrs587777456
hgdprs587777456
ensemblrs587777456
gopubmedrs587777456
geneviewrs587777456
scholarrs587777456
googlers587777456
pharmgkbrs587777456
gwascentralrs587777456
openSNPrs587777456
23andMers587777456
23andMe allrs587777456
SNP Nexus

SNPshotrs587777456
SNPdbers587777456
MSV3drs587777456
GWAS Ctlgrs587777456
Max Magnitude0
ClinVar
Risk rs587777456(;)
Alt rs587777456(;)
Reference rs587777456(CTGA;CTGA)
Significance Pathogenic
Disease Culler-Jones syndrome
Variation info
Gene GLI2
CLNDBN Culler-Jones syndrome
Reversed 0
HGVS NC_000002.11:g.121743978_121743981delTGAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000128397.3,