rs28933382

Orientation

plus

Stabilized

plus

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

Make rs28933382(A;A)

Make rs28933382(A;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

4912109

Gene

KCNA1

is a	snp
is	mentioned by
dbSNP	rs28933382
dbSNP (classic)	rs28933382
ClinGen	rs28933382
ebi	rs28933382
HLI	rs28933382
Exac	rs28933382
Gnomad	rs28933382
Varsome	rs28933382
LitVar	rs28933382
Map	rs28933382
PheGenI	rs28933382
Biobank	rs28933382
1000 genomes	rs28933382
hgdp	rs28933382
ensembl	rs28933382
geneview	rs28933382
scholar	rs28933382
google	rs28933382
pharmgkb	rs28933382
gwascentral	rs28933382
openSNP	rs28933382
23andMe	rs28933382
SNPshot	rs28933382
SNPdbe	rs28933382
MSV3d	rs28933382
GWAS Ctlg	rs28933382

Max Magnitude

0

OMIM	176260
Desc	MYOKYMIA
Variant	0011
Related	also

ClinVar
Risk	rs28933382(A;A)
Alt	rs28933382(A;A)
Reference	Rs28933382(C;C)
Significance	Pathogenic
Disease	Myokymia 1
Variation	info
Gene	KCNA1
CLNDBN	Myokymia 1
Reversed	0
HGVS	NC_000012.11:g.5021275C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014434.26,