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rs148211042

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs148211042(C;T)
Make rs148211042(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position219210799
GeneABCB6
is asnp
is mentioned by
dbSNPrs148211042
ebirs148211042
HLIrs148211042
Exacrs148211042
Varsomers148211042
Maprs148211042
PheGenIrs148211042
hapmaprs148211042
1000 genomesrs148211042
hgdprs148211042
ensemblrs148211042
gopubmedrs148211042
geneviewrs148211042
scholarrs148211042
googlers148211042
pharmgkbrs148211042
gwascentralrs148211042
openSNPrs148211042
23andMers148211042
23andMe allrs148211042
SNP Nexus

SNPshotrs148211042
SNPdbers148211042
MSV3drs148211042
GWAS Ctlgrs148211042
Max Magnitude0
ClinVar
Risk rs148211042(T;T)
Alt rs148211042(T;T)
Reference rs148211042(C;C)
Significance Pathogenic
Disease Pseudohyperkalemia
Variation info
Gene ABCB6
CLNDBN Pseudohyperkalemia, familial, 2, due to red cell leak
Reversed 0
HGVS NC_000002.11:g.220075521C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000202405.1,