rs199473650

Orientation

plus

Stabilized

plus

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

Make rs199473650(G;T)

Make rs199473650(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

70175200

Gene

KCNJ2

is a	snp
is	mentioned by
dbSNP	rs199473650
dbSNP (classic)	rs199473650
ClinGen	rs199473650
ebi	rs199473650
HLI	rs199473650
Exac	rs199473650
Gnomad	rs199473650
Varsome	rs199473650
LitVar	rs199473650
Map	rs199473650
PheGenI	rs199473650
Biobank	rs199473650
1000 genomes	rs199473650
hgdp	rs199473650
ensembl	rs199473650
geneview	rs199473650
scholar	rs199473650
google	rs199473650
pharmgkb	rs199473650
gwascentral	rs199473650
openSNP	rs199473650
23andMe	rs199473650
SNPshot	rs199473650
SNPdbe	rs199473650
MSV3d	rs199473650
GWAS Ctlg	rs199473650

Max Magnitude

0

ClinVar
Risk	rs199473650(T;T)
Alt	rs199473650(T;T)
Reference	Rs199473650(G;G)
Significance	Pathogenic
Disease	Andersen Tawil syndrome Familial periodic paralysis
Variation	info
Gene	KCNJ2
CLNDBN	Andersen Tawil syndrome Familial periodic paralysis
Reversed	0
HGVS	NC_000017.10:g.68171341G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023027.2, RCV000058293.3,

[PMID 17324964] Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred.

[PMID 19201608] Glucocorticoids may trigger attacks in several types of periodic paralysis.