rs199469635

Orientation

minus

Stabilized

minus

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

Make rs199469635(C;T)

Make rs199469635(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

137628306

Gene

KLHL3

is a	snp
is	mentioned by
dbSNP	rs199469635
dbSNP (classic)	rs199469635
ClinGen	rs199469635
ebi	rs199469635
HLI	rs199469635
Exac	rs199469635
Gnomad	rs199469635
Varsome	rs199469635
LitVar	rs199469635
Map	rs199469635
PheGenI	rs199469635
Biobank	rs199469635
1000 genomes	rs199469635
hgdp	rs199469635
ensembl	rs199469635
geneview	rs199469635
scholar	rs199469635
google	rs199469635
pharmgkb	rs199469635
gwascentral	rs199469635
openSNP	rs199469635
23andMe	rs199469635
SNPshot	rs199469635
SNPdbe	rs199469635
MSV3d	rs199469635
GWAS Ctlg	rs199469635

Max Magnitude

0

ClinVar
Risk	rs199469635(T;T)
Alt	rs199469635(T;T)
Reference	Rs199469635(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.136963995G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023479.2, RCV000128518.1,