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rs587777455

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CGGCTGT;CGGCTGT) 0 common in clinvar
Make rs587777455(-;-)
Make rs587777455(-;CTGTCGG)
Make rs587777455(CTGTCGG;CTGTCGG)
ReferenceGRCh38 38.1/142
Chromosome2
Position120988276
GeneGLI2
is asnp
is mentioned by
dbSNPrs587777455
ebirs587777455
HLIrs587777455
Exacrs587777455
Varsomers587777455
Maprs587777455
PheGenIrs587777455
hapmaprs587777455
1000 genomesrs587777455
hgdprs587777455
ensemblrs587777455
gopubmedrs587777455
geneviewrs587777455
scholarrs587777455
googlers587777455
pharmgkbrs587777455
gwascentralrs587777455
openSNPrs587777455
23andMers587777455
23andMe allrs587777455
SNP Nexus

SNPshotrs587777455
SNPdbers587777455
MSV3drs587777455
GWAS Ctlgrs587777455
Max Magnitude0
ClinVar
Risk rs587777455(;)
Alt rs587777455(;)
Reference rs587777455(CGGCTGT;CGGCTGT)
Significance Pathogenic
Disease Culler-Jones syndrome
Variation info
Gene GLI2
CLNDBN Culler-Jones syndrome
Reversed 0
HGVS NC_000002.11:g.121745852_121745858delCTGTCGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000128396.3,