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rs748404250

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs748404250(C;C)
Make rs748404250(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome8
Position66177389
GeneCRH
is asnp
is mentioned by
dbSNPrs748404250
ebirs748404250
HLIrs748404250
Exacrs748404250
Varsomers748404250
Maprs748404250
PheGenIrs748404250
hapmaprs748404250
1000 genomesrs748404250
hgdprs748404250
ensemblrs748404250
gopubmedrs748404250
geneviewrs748404250
scholarrs748404250
googlers748404250
pharmgkbrs748404250
gwascentralrs748404250
openSNPrs748404250
23andMers748404250
23andMe allrs748404250
SNP Nexus

SNPshotrs748404250
SNPdbers748404250
MSV3drs748404250
GWAS Ctlgrs748404250
Max Magnitude0
ClinVar
Risk rs748404250(C;C)
Alt rs748404250(C;C)
Reference rs748404250(G;G)
Significance Pathogenic
Disease not provided Autosomal dominant nocturnal frontal lobe epilepsy
Variation info
Gene CRH
CLNDBN not provided Autosomal dominant nocturnal frontal lobe epilepsy
Reversed 0
HGVS NC_000008.10:g.67089624G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000172993.3, RCV000192059.1,