rs137853333

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs137853333(A;G)

Make rs137853333(G;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

77090433

Gene

KCNMA1

is a	snp
is	mentioned by
dbSNP	rs137853333
dbSNP (classic)	rs137853333
ClinGen	rs137853333
ebi	rs137853333
HLI	rs137853333
Exac	rs137853333
Gnomad	rs137853333
Varsome	rs137853333
LitVar	rs137853333
Map	rs137853333
PheGenI	rs137853333
Biobank	rs137853333
1000 genomes	rs137853333
hgdp	rs137853333
ensembl	rs137853333
geneview	rs137853333
scholar	rs137853333
google	rs137853333
pharmgkb	rs137853333
gwascentral	rs137853333
openSNP	rs137853333
23andMe	rs137853333
SNPshot	rs137853333
SNPdbe	rs137853333
MSV3d	rs137853333
GWAS Ctlg	rs137853333

Max Magnitude

0

OMIM	600150
Desc
Variant	0001
Related	also

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 UniProtKB (protein)
CLNACC	RCV000010034.4,