rs199469632

Orientation

minus

Stabilized

minus

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

Make rs199469632(A;A)

Make rs199469632(A;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

137637317

Gene

KLHL3

is a	snp
is	mentioned by
dbSNP	rs199469632
dbSNP (classic)	rs199469632
ClinGen	rs199469632
ebi	rs199469632
HLI	rs199469632
Exac	rs199469632
Gnomad	rs199469632
Varsome	rs199469632
LitVar	rs199469632
Map	rs199469632
PheGenI	rs199469632
Biobank	rs199469632
1000 genomes	rs199469632
hgdp	rs199469632
ensembl	rs199469632
geneview	rs199469632
scholar	rs199469632
google	rs199469632
pharmgkb	rs199469632
gwascentral	rs199469632
openSNP	rs199469632
23andMe	rs199469632
SNPshot	rs199469632
SNPdbe	rs199469632
MSV3d	rs199469632
GWAS Ctlg	rs199469632

Max Magnitude

0

ClinVar
Risk	rs199469632(A;A)
Alt	rs199469632(A;A)
Reference	Rs199469632(G;G)
Significance	Pathogenic
Disease	Pseudohypoaldosteronism type 2D Pseudohypoaldosteronism
Variation	info
Gene	KLHL3
CLNDBN	Pseudohypoaldosteronism type 2D Pseudohypoaldosteronism, type 2
Reversed	1
HGVS	NC_000005.9:g.136973006C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023480.2, RCV000128523.1,