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rs104894585

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894585(C;G)
Make rs104894585(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position70175263
GeneKCNJ2
is asnp
is mentioned by
dbSNPrs104894585
ebirs104894585
HLIrs104894585
Exacrs104894585
Varsomers104894585
Maprs104894585
PheGenIrs104894585
hapmaprs104894585
1000 genomesrs104894585
hgdprs104894585
ensemblrs104894585
gopubmedrs104894585
geneviewrs104894585
scholarrs104894585
googlers104894585
pharmgkbrs104894585
gwascentralrs104894585
openSNPrs104894585
23andMers104894585
23andMe allrs104894585
SNP Nexus

SNPshotrs104894585
SNPdbers104894585
MSV3drs104894585
GWAS Ctlgrs104894585
Max Magnitude0
OMIM600681
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104894585(G,T;G,T)
Alt rs104894585(G,T;G,T)
Reference rs104894585(C;C)
Significance Pathogenic
Disease Andersen Tawil syndrome Congenital long QT syndrome not provided
Variation info
Gene KCNJ2
CLNDBN Andersen Tawil syndrome Congenital long QT syndrome not provided
Reversed 0
HGVS NC_000017.10:g.68171404C>G; NC_000017.10:g.68171404C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009483.2, RCV000058301.2, RCV000058302.2, RCV000170993.2,


[PMID 12796536] PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.


[PMID 16571646OA-icon.png] Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome.


[PMID 16217063] Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.


[PMID 17582433] T75M-KCNJ2 mutation causing Andersen-Tawil syndrome enhances inward rectification by changing Mg2+ sensitivity.