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rs199473650

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473650(G;T)
Make rs199473650(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position70175200
GeneKCNJ2
is asnp
is mentioned by
dbSNPrs199473650
ebirs199473650
HLIrs199473650
Exacrs199473650
Varsomers199473650
Maprs199473650
PheGenIrs199473650
hapmaprs199473650
1000 genomesrs199473650
hgdprs199473650
ensemblrs199473650
gopubmedrs199473650
geneviewrs199473650
scholarrs199473650
googlers199473650
pharmgkbrs199473650
gwascentralrs199473650
openSNPrs199473650
23andMers199473650
23andMe allrs199473650
SNP Nexus

SNPshotrs199473650
SNPdbers199473650
MSV3drs199473650
GWAS Ctlgrs199473650
Max Magnitude0
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
CLNACC RCV000023027.2, RCV000058293.2,


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


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