Have questions? Visit https://www.reddit.com/r/SNPedia

rs376292686

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs376292686(C;T)
Make rs376292686(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position44107995
GeneEXT2
is asnp
is mentioned by
dbSNPrs376292686
ebirs376292686
HLIrs376292686
Exacrs376292686
Varsomers376292686
Maprs376292686
PheGenIrs376292686
hapmaprs376292686
1000 genomesrs376292686
hgdprs376292686
ensemblrs376292686
gopubmedrs376292686
geneviewrs376292686
scholarrs376292686
googlers376292686
pharmgkbrs376292686
gwascentralrs376292686
openSNPrs376292686
23andMers376292686
23andMe allrs376292686
SNP Nexus

SNPshotrs376292686
SNPdbers376292686
MSV3drs376292686
GWAS Ctlgrs376292686
Max Magnitude0
ClinVar
Risk rs376292686(T;T)
Alt rs376292686(T;T)
Reference rs376292686(C;C)
Significance Pathogenic
Disease Seizures
Variation info
Gene EXT2
CLNDBN Seizures, scoliosis, and macrocephaly syndrome
Reversed 0
HGVS NC_000011.9:g.44129545C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000203245.2,