rs148211042

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs148211042(C;T)

Make rs148211042(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

2

Position

219210799

Gene

ABCB6

is a	snp
is	mentioned by
dbSNP	rs148211042
dbSNP (classic)	rs148211042
ClinGen	rs148211042
ebi	rs148211042
HLI	rs148211042
Exac	rs148211042
Gnomad	rs148211042
Varsome	rs148211042
LitVar	rs148211042
Map	rs148211042
PheGenI	rs148211042
Biobank	rs148211042
1000 genomes	rs148211042
hgdp	rs148211042
ensembl	rs148211042
geneview	rs148211042
scholar	rs148211042
google	rs148211042
pharmgkb	rs148211042
gwascentral	rs148211042
openSNP	rs148211042
23andMe	rs148211042
SNPshot	rs148211042
SNPdbe	rs148211042
MSV3d	rs148211042
GWAS Ctlg	rs148211042

Max Magnitude

0

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,