rs199469643

Orientation

minus

Stabilized

minus

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

Make rs199469643(A;A)

Make rs199469643(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

137637323

Gene

KLHL3

is a	snp
is	mentioned by
dbSNP	rs199469643
dbSNP (classic)	rs199469643
ClinGen	rs199469643
ebi	rs199469643
HLI	rs199469643
Exac	rs199469643
Gnomad	rs199469643
Varsome	rs199469643
LitVar	rs199469643
Map	rs199469643
PheGenI	rs199469643
Biobank	rs199469643
1000 genomes	rs199469643
hgdp	rs199469643
ensembl	rs199469643
geneview	rs199469643
scholar	rs199469643
google	rs199469643
pharmgkb	rs199469643
gwascentral	rs199469643
openSNP	rs199469643
23andMe	rs199469643
SNPshot	rs199469643
SNPdbe	rs199469643
MSV3d	rs199469643
GWAS Ctlg	rs199469643

Max Magnitude

0

ClinVar
Risk	rs199469643(A;A)
Alt	rs199469643(A;A)
Reference	Rs199469643(G;G)
Significance	Pathogenic
Disease	Pseudohypoaldosteronism
Variation	info
Gene	KLHL3
CLNDBN	Pseudohypoaldosteronism, type 2
Reversed	1
HGVS	NC_000005.9:g.136973012C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000128517.1,