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rs863225463

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863225463(C;C)
Make rs863225463(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44253369
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs863225463
dbSNP (classic)rs863225463
ClinGenrs863225463
ebirs863225463
HLIrs863225463
Exacrs863225463
Gnomadrs863225463
Varsomers863225463
LitVarrs863225463
Maprs863225463
PheGenIrs863225463
Biobankrs863225463
1000 genomesrs863225463
hgdprs863225463
ensemblrs863225463
geneviewrs863225463
scholarrs863225463
googlers863225463
pharmgkbrs863225463
gwascentralrs863225463
openSNPrs863225463
23andMers863225463
SNPshotrs863225463
SNPdbers863225463
MSV3drs863225463
GWAS Ctlgrs863225463
Max Magnitude0
ClinVar
Risk rs863225463(C;C)
Alt rs863225463(C;C)
Reference Rs863225463(T;T)
Significance Pathogenic
Disease Pseudohyperkalemia Cardiff
Variation info
Gene SLC4A1
CLNDBN Pseudohyperkalemia Cardiff
Reversed 1
HGVS NC_000017.10:g.42330737A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000202408.1,