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rs863225461

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863225461(C;C)
Make rs863225461(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44253238
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs863225461
dbSNP (classic)rs863225461
ClinGenrs863225461
ebirs863225461
HLIrs863225461
Exacrs863225461
Gnomadrs863225461
Varsomers863225461
LitVarrs863225461
Maprs863225461
PheGenIrs863225461
Biobankrs863225461
1000 genomesrs863225461
hgdprs863225461
ensemblrs863225461
geneviewrs863225461
scholarrs863225461
googlers863225461
pharmgkbrs863225461
gwascentralrs863225461
openSNPrs863225461
23andMers863225461
SNPshotrs863225461
SNPdbers863225461
MSV3drs863225461
GWAS Ctlgrs863225461
Max Magnitude0
ClinVar
Risk rs863225461(C;C)
Alt rs863225461(C;C)
Reference Rs863225461(T;T)
Significance Pathogenic
Disease Pseudohyperkalemia Cardiff
Variation info
Gene SLC4A1
CLNDBN Pseudohyperkalemia Cardiff
Reversed 1
HGVS NC_000017.10:g.42330606A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000202410.1,