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rs587776993

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587776993(C;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position69004378
GeneEOGT
is asnp
is mentioned by
dbSNPrs587776993
ebirs587776993
HLIrs587776993
Exacrs587776993
Varsomers587776993
Maprs587776993
PheGenIrs587776993
hapmaprs587776993
1000 genomesrs587776993
hgdprs587776993
ensemblrs587776993
gopubmedrs587776993
geneviewrs587776993
scholarrs587776993
googlers587776993
pharmgkbrs587776993
gwascentralrs587776993
openSNPrs587776993
23andMers587776993
23andMe allrs587776993
SNP Nexus

SNPshotrs587776993
SNPdbers587776993
MSV3drs587776993
GWAS Ctlgrs587776993
Max Magnitude0
ClinVar
Risk rs587776993(C;C)
Alt rs587776993(C;C)
Reference rs587776993(G;G)
Significance Pathogenic
Disease Adams-Oliver syndrome 4
Variation info
Gene EOGT
CLNDBN Adams-Oliver syndrome 4
Reversed 1
HGVS NC_000003.11:g.69053529C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000049241.2,