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rs587776954

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587776954(A;G)
Make rs587776954(G;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position6944122
GeneC12orf57, RNU7-1
is asnp
is mentioned by
dbSNPrs587776954
ebirs587776954
HLIrs587776954
Exacrs587776954
Varsomers587776954
Maprs587776954
PheGenIrs587776954
hapmaprs587776954
1000 genomesrs587776954
hgdprs587776954
ensemblrs587776954
gopubmedrs587776954
geneviewrs587776954
scholarrs587776954
googlers587776954
pharmgkbrs587776954
gwascentralrs587776954
openSNPrs587776954
23andMers587776954
23andMe allrs587776954
SNP Nexus

SNPshotrs587776954
SNPdbers587776954
MSV3drs587776954
GWAS Ctlgrs587776954
Max Magnitude0
ClinVar
Risk rs587776954(G;G)
Alt rs587776954(G;G)
Reference rs587776954(A;A)
Significance Pathogenic
Disease Temtamy syndrome Colobomatous microphthalmia Corpus callosum abnormalities Global developmental delay Seizures
Variation info
Gene C12orf57 RNU7-1
CLNDBN Temtamy syndrome Colobomatous microphthalmia Corpus callosum abnormalities Global developmental delay Seizures
Reversed 0
HGVS NC_000012.11:g.7053285A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000034852.7, RCV000162118.1,