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rs550492993

From SNPedia

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Geno Mag Summary
(T;T) 0 common in clinvar
Make rs550492993(G;G)
Make rs550492993(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position117130530
GeneST7, ST7-AS2
is asnp
is mentioned by
dbSNPrs550492993
ebirs550492993
HLIrs550492993
Exacrs550492993
Varsomers550492993
Maprs550492993
PheGenIrs550492993
hapmaprs550492993
1000 genomesrs550492993
hgdprs550492993
ensemblrs550492993
gopubmedrs550492993
geneviewrs550492993
scholarrs550492993
googlers550492993
pharmgkbrs550492993
gwascentralrs550492993
openSNPrs550492993
23andMers550492993
23andMe allrs550492993
SNP Nexus

SNPshotrs550492993
SNPdbers550492993
MSV3drs550492993
GWAS Ctlgrs550492993
Max Magnitude0
ClinVar
Risk rs550492993(C,G;C,G)
Alt rs550492993(C,G;C,G)
Reference rs550492993(T;T)
Significance Probable-Pathogenic
Disease Brain atrophy Global developmental delay Intractable seizure
Variation info
Gene ST7-AS2 ST7
CLNDBN Brain atrophy Global developmental delay Intractable seizure
Reversed 0
HGVS NC_000007.13:g.116770584T>G
CLNSRC
CLNACC RCV000162112.1,