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rs121918067

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121918067(A;G)
Make rs121918067(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position4912141
GeneKCNA1
is asnp
is mentioned by
dbSNPrs121918067
ebirs121918067
HLIrs121918067
Exacrs121918067
Varsomers121918067
Maprs121918067
PheGenIrs121918067
hapmaprs121918067
1000 genomesrs121918067
hgdprs121918067
ensemblrs121918067
gopubmedrs121918067
geneviewrs121918067
scholarrs121918067
googlers121918067
pharmgkbrs121918067
gwascentralrs121918067
openSNPrs121918067
23andMers121918067
23andMe allrs121918067
SNP Nexus

SNPshotrs121918067
SNPdbers121918067
MSV3drs121918067
GWAS Ctlgrs121918067
Max Magnitude0
OMIM176260
Desc
Variant0015
Relatedalso
ClinVar
Risk rs121918067(G;G)
Alt rs121918067(G;G)
Reference rs121918067(A;A)
Significance Pathogenic
Disease Myokymia 1 with hypomagnesemia
Variation info
Gene KCNA1
CLNDBN Myokymia 1 with hypomagnesemia
Reversed 0
HGVS NC_000012.11:g.5021307A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014438.17,