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rs730880275

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880275(-;-)
Make rs730880275(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position148383882
GeneCNTNAP2, LOC105375554
is asnp
is mentioned by
dbSNPrs730880275
ebirs730880275
HLIrs730880275
Exacrs730880275
Varsomers730880275
Maprs730880275
PheGenIrs730880275
hapmaprs730880275
1000 genomesrs730880275
hgdprs730880275
ensemblrs730880275
gopubmedrs730880275
geneviewrs730880275
scholarrs730880275
googlers730880275
pharmgkbrs730880275
gwascentralrs730880275
openSNPrs730880275
23andMers730880275
23andMe allrs730880275
SNP Nexus

SNPshotrs730880275
SNPdbers730880275
MSV3drs730880275
GWAS Ctlgrs730880275
Max Magnitude0
ClinVar
Risk rs730880275(;)
Alt rs730880275(;)
Reference rs730880275(G;G)
Significance Pathogenic
Disease Cortical dysplasia-focal epilepsy syndrome
Variation info
Gene CNTNAP2
CLNDBN Cortical dysplasia-focal epilepsy syndrome
Reversed 0
HGVS NC_000007.13:g.148080974delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000005825.3,