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rs267607232

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267607232(C;C)
Make rs267607232(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position93796509
GeneMED17
is asnp
is mentioned by
dbSNPrs267607232
ebirs267607232
HLIrs267607232
Exacrs267607232
Varsomers267607232
Maprs267607232
PheGenIrs267607232
hapmaprs267607232
1000 genomesrs267607232
hgdprs267607232
ensemblrs267607232
gopubmedrs267607232
geneviewrs267607232
scholarrs267607232
googlers267607232
pharmgkbrs267607232
gwascentralrs267607232
openSNPrs267607232
23andMers267607232
23andMe allrs267607232
SNP Nexus

SNPshotrs267607232
SNPdbers267607232
MSV3drs267607232
GWAS Ctlgrs267607232
Max Magnitude0
ClinVar
Risk rs267607232(C;C)
Alt rs267607232(C;C)
Reference rs267607232(T;T)
Significance Pathogenic
Disease Microcephaly
Variation info
Gene MED17
CLNDBN Microcephaly, postnatal progressive, with seizures and brain atrophy
Reversed 0
HGVS NC_000011.9:g.93529675T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006410.2,