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rs587780394

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587780394(C;T)
Make rs587780394(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position93790727
GeneMED17
is asnp
is mentioned by
dbSNPrs587780394
ebirs587780394
HLIrs587780394
Exacrs587780394
Varsomers587780394
Maprs587780394
PheGenIrs587780394
hapmaprs587780394
1000 genomesrs587780394
hgdprs587780394
ensemblrs587780394
gopubmedrs587780394
geneviewrs587780394
scholarrs587780394
googlers587780394
pharmgkbrs587780394
gwascentralrs587780394
openSNPrs587780394
23andMers587780394
23andMe allrs587780394
SNP Nexus

SNPshotrs587780394
SNPdbers587780394
MSV3drs587780394
GWAS Ctlgrs587780394
Max Magnitude0
ClinVar
Risk rs587780394(T;T)
Alt rs587780394(T;T)
Reference rs587780394(C;C)
Significance Probable-Pathogenic
Disease Microcephaly
Variation info
Gene MED17
CLNDBN Microcephaly, postnatal progressive, with seizures and brain atrophy
Reversed 0
HGVS NC_000011.9:g.93523893C>T
CLNSRC
CLNACC RCV000117613.1,