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rs764893806

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs764893806(A;A)
Make rs764893806(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position219216028
GeneABCB6
is asnp
is mentioned by
dbSNPrs764893806
dbSNP (classic)rs764893806
ClinGenrs764893806
ebirs764893806
HLIrs764893806
Exacrs764893806
Gnomadrs764893806
Varsomers764893806
LitVarrs764893806
Maprs764893806
PheGenIrs764893806
Biobankrs764893806
1000 genomesrs764893806
hgdprs764893806
ensemblrs764893806
geneviewrs764893806
scholarrs764893806
googlers764893806
pharmgkbrs764893806
gwascentralrs764893806
openSNPrs764893806
23andMers764893806
SNPshotrs764893806
SNPdbers764893806
MSV3drs764893806
GWAS Ctlgrs764893806
Max Magnitude0
ClinVar
Risk rs764893806(A;A)
Alt rs764893806(A;A)
Reference Rs764893806(G;G)
Significance Pathogenic
Disease Pseudohyperkalemia
Variation info
Gene ABCB6
CLNDBN Pseudohyperkalemia, familial, 2, due to red cell leak
Reversed 0
HGVS NC_000002.11:g.220080750G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000202404.1,