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rs121917875

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917875(C;T)
Make rs121917875(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position18121814
GeneNHLRC1
is asnp
is mentioned by
dbSNPrs121917875
ebirs121917875
HLIrs121917875
Exacrs121917875
Varsomers121917875
Maprs121917875
PheGenIrs121917875
hapmaprs121917875
1000 genomesrs121917875
hgdprs121917875
ensemblrs121917875
gopubmedrs121917875
geneviewrs121917875
scholarrs121917875
googlers121917875
pharmgkbrs121917875
gwascentralrs121917875
openSNPrs121917875
23andMers121917875
23andMe allrs121917875
SNP Nexus

SNPshotrs121917875
SNPdbers121917875
MSV3drs121917875
GWAS Ctlgrs121917875
Max Magnitude0
ClinVar
Risk rs121917875(T;T)
Alt rs121917875(T;T)
Reference rs121917875(C;C)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene NHLRC1
CLNDBN Epilepsy, progressive myoclonic 2b
Reversed 1
HGVS NC_000006.11:g.18122045G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002708.4,