rs199469641

Orientation

minus

Stabilized

minus

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

Make rs199469641(C;T)

Make rs199469641(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

137637386

Gene

KLHL3

is a	snp
is	mentioned by
dbSNP	rs199469641
dbSNP (classic)	rs199469641
ClinGen	rs199469641
ebi	rs199469641
HLI	rs199469641
Exac	rs199469641
Gnomad	rs199469641
Varsome	rs199469641
LitVar	rs199469641
Map	rs199469641
PheGenI	rs199469641
Biobank	rs199469641
1000 genomes	rs199469641
hgdp	rs199469641
ensembl	rs199469641
geneview	rs199469641
scholar	rs199469641
google	rs199469641
pharmgkb	rs199469641
gwascentral	rs199469641
openSNP	rs199469641
23andMe	rs199469641
SNPshot	rs199469641
SNPdbe	rs199469641
MSV3d	rs199469641
GWAS Ctlg	rs199469641

Max Magnitude

0

ClinVar
Risk	rs199469641(T;T)
Alt	rs199469641(T;T)
Reference	Rs199469641(C;C)
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.136973075G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023474.2, RCV000128521.1,