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rs140075817

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs140075817(G;G)
Make rs140075817(G;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position44107972
GeneEXT2
is asnp
is mentioned by
dbSNPrs140075817
ebirs140075817
HLIrs140075817
Exacrs140075817
Varsomers140075817
Maprs140075817
PheGenIrs140075817
hapmaprs140075817
1000 genomesrs140075817
hgdprs140075817
ensemblrs140075817
gopubmedrs140075817
geneviewrs140075817
scholarrs140075817
googlers140075817
pharmgkbrs140075817
gwascentralrs140075817
openSNPrs140075817
23andMers140075817
23andMe allrs140075817
SNP Nexus

SNPshotrs140075817
SNPdbers140075817
MSV3drs140075817
GWAS Ctlgrs140075817
Max Magnitude0
ClinVar
Risk rs140075817(G;G)
Alt rs140075817(G;G)
Reference rs140075817(T;T)
Significance Pathogenic
Disease not specified Seizures
Variation info
Gene EXT2
CLNDBN not specified Seizures, scoliosis, and macrocephaly syndrome
Reversed 0
HGVS NC_000011.9:g.44129522T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000120884.1, RCV000203245.2,