Have questions? Visit https://www.reddit.com/r/SNPedia

rs2486253

From SNPedia

Orientationminus
Stabilizedminus
Make rs2486253(G;G)
Make rs2486253(G;T)
Make rs2486253(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position160039629
GeneKCNJ10
is asnp
is mentioned by
dbSNPrs2486253
ClinGenrs2486253
ebirs2486253
HLIrs2486253
Exacrs2486253
Varsomers2486253
Maprs2486253
PheGenIrs2486253
hapmaprs2486253
1000 genomesrs2486253
hgdprs2486253
ensemblrs2486253
gopubmedrs2486253
geneviewrs2486253
scholarrs2486253
googlers2486253
pharmgkbrs2486253
gwascentralrs2486253
openSNPrs2486253
23andMers2486253
23andMe allrs2486253
SNP Nexus

SNPshotrs2486253
SNPdbers2486253
MSV3drs2486253
GWAS Ctlgrs2486253
Max Magnitude
? (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,