rs2486253

Orientation

minus

Stabilized

minus

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

Make rs2486253(G;G)

Make rs2486253(G;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

160039629

Gene

KCNJ10

is a	snp
is	mentioned by
dbSNP	rs2486253
dbSNP (classic)	rs2486253
ClinGen	rs2486253
ebi	rs2486253
HLI	rs2486253
Exac	rs2486253
Gnomad	rs2486253
Varsome	rs2486253
LitVar	rs2486253
Map	rs2486253
PheGenI	rs2486253
Biobank	rs2486253
1000 genomes	rs2486253
hgdp	rs2486253
ensembl	rs2486253
geneview	rs2486253
scholar	rs2486253
google	rs2486253
pharmgkb	rs2486253
gwascentral	rs2486253
openSNP	rs2486253
23andMe	rs2486253
SNPshot	rs2486253
SNPdbe	rs2486253
MSV3d	rs2486253
GWAS Ctlg	rs2486253

Max Magnitude

0

?	(G;G) (G;T) (T;T)	28

[PMID 25008907] Contribution of KCNJ10 Gene Polymorphisms in Childhood Epilepsy

ClinVar
Risk	rs2486253(G;G)
Alt	rs2486253(G;G)
Reference	Rs2486253(T;T)
Significance	Non-pathogenic
Disease	Nonsyndromic Hearing Loss Pendred's syndrome Seizures
Variation	info
Gene	KCNJ10
CLNDBN	Nonsyndromic Hearing Loss, Mixed Pendred's syndrome Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome
Reversed	1
HGVS	NC_000001.10:g.160009419A>C
CLNSRC
CLNACC	RCV000262610.1, RCV000302435.1, RCV000359621.1,