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rs137853333

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853333(A;G)
Make rs137853333(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position77090433
GeneKCNMA1
is asnp
is mentioned by
dbSNPrs137853333
ebirs137853333
HLIrs137853333
Exacrs137853333
Varsomers137853333
Maprs137853333
PheGenIrs137853333
hapmaprs137853333
1000 genomesrs137853333
hgdprs137853333
ensemblrs137853333
gopubmedrs137853333
geneviewrs137853333
scholarrs137853333
googlers137853333
pharmgkbrs137853333
gwascentralrs137853333
openSNPrs137853333
23andMers137853333
23andMe allrs137853333
SNP Nexus

SNPshotrs137853333
SNPdbers137853333
MSV3drs137853333
GWAS Ctlgrs137853333
Max Magnitude0
OMIM600150
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137853333(G;G)
Alt rs137853333(G;G)
Reference rs137853333(A;A)
Significance Pathogenic
Disease Generalized epilepsy and paroxysmal dyskinesia
Variation info
Gene KCNMA1
CLNDBN Generalized epilepsy and paroxysmal dyskinesia
Reversed 1
HGVS NC_000010.10:g.78850191T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010034.4,