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rs587776995

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587776995(C;T)
Make rs587776995(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position68987467
GeneEOGT
is asnp
is mentioned by
dbSNPrs587776995
ebirs587776995
HLIrs587776995
Exacrs587776995
Varsomers587776995
Maprs587776995
PheGenIrs587776995
hapmaprs587776995
1000 genomesrs587776995
hgdprs587776995
ensemblrs587776995
gopubmedrs587776995
geneviewrs587776995
scholarrs587776995
googlers587776995
pharmgkbrs587776995
gwascentralrs587776995
openSNPrs587776995
23andMers587776995
23andMe allrs587776995
SNP Nexus

SNPshotrs587776995
SNPdbers587776995
MSV3drs587776995
GWAS Ctlgrs587776995
Max Magnitude0
ClinVar
Risk rs587776995(T;T)
Alt rs587776995(T;T)
Reference rs587776995(C;C)
Significance Pathogenic
Disease Adams-Oliver syndrome 4
Variation info
Gene EOGT
CLNDBN Adams-Oliver syndrome 4
Reversed 0
HGVS NC_000003.11:g.69036618C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000049243.4,