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rs863225462

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863225462(A;G)
Make rs863225462(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44253228
GeneSLC4A1
is asnp
is mentioned by
dbSNPrs863225462
dbSNP (classic)rs863225462
ClinGenrs863225462
ebirs863225462
HLIrs863225462
Exacrs863225462
Gnomadrs863225462
Varsomers863225462
LitVarrs863225462
Maprs863225462
PheGenIrs863225462
Biobankrs863225462
1000 genomesrs863225462
hgdprs863225462
ensemblrs863225462
geneviewrs863225462
scholarrs863225462
googlers863225462
pharmgkbrs863225462
gwascentralrs863225462
openSNPrs863225462
23andMers863225462
SNPshotrs863225462
SNPdbers863225462
MSV3drs863225462
GWAS Ctlgrs863225462
Max Magnitude0
ClinVar
Risk rs863225462(G;G)
Alt rs863225462(G;G)
Reference Rs863225462(A;A)
Significance Pathogenic
Disease Pseudohyperkalemia Cardiff
Variation info
Gene SLC4A1
CLNDBN Pseudohyperkalemia Cardiff
Reversed 1
HGVS NC_000017.10:g.42330596T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000202413.1,