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rs587776994

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587776994(-;-)
Make rs587776994(-;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position68988304
GeneEOGT
is asnp
is mentioned by
dbSNPrs587776994
ebirs587776994
HLIrs587776994
Exacrs587776994
Varsomers587776994
Maprs587776994
PheGenIrs587776994
hapmaprs587776994
1000 genomesrs587776994
hgdprs587776994
ensemblrs587776994
gopubmedrs587776994
geneviewrs587776994
scholarrs587776994
googlers587776994
pharmgkbrs587776994
gwascentralrs587776994
openSNPrs587776994
23andMers587776994
23andMe allrs587776994
SNP Nexus

SNPshotrs587776994
SNPdbers587776994
MSV3drs587776994
GWAS Ctlgrs587776994
Max Magnitude0
ClinVar
Risk rs587776994(TG,G;TG,G)
Alt rs587776994(TG,G;TG,G)
Reference rs587776994(AG;AG)
Significance Pathogenic
Disease Adams-Oliver syndrome 4 Adams-Oliver syndrome
Variation info
Gene EOGT
CLNDBN Adams-Oliver syndrome 4 Adams-Oliver syndrome
Reversed 1
HGVS NC_000003.11:g.69037455delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000049242.3, RCV000162168.1,