rs199469627

Orientation

minus

Stabilized

minus

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

Make rs199469627(A;G)

Make rs199469627(G;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

137639955

Gene

KLHL3

is a	snp
is	mentioned by
dbSNP	rs199469627
dbSNP (classic)	rs199469627
ClinGen	rs199469627
ebi	rs199469627
HLI	rs199469627
Exac	rs199469627
Gnomad	rs199469627
Varsome	rs199469627
LitVar	rs199469627
Map	rs199469627
PheGenI	rs199469627
Biobank	rs199469627
1000 genomes	rs199469627
hgdp	rs199469627
ensembl	rs199469627
geneview	rs199469627
scholar	rs199469627
google	rs199469627
pharmgkb	rs199469627
gwascentral	rs199469627
openSNP	rs199469627
23andMe	rs199469627
SNPshot	rs199469627
SNPdbe	rs199469627
MSV3d	rs199469627
GWAS Ctlg	rs199469627

Max Magnitude

0

ClinVar
Risk	rs199469627(G;G)
Alt	rs199469627(G;G)
Reference	Rs199469627(A;A)
Significance	Pathogenic
Disease	Pseudohypoaldosteronism
Variation	info
Gene	KLHL3
CLNDBN	Pseudohypoaldosteronism, type 2
Reversed	1
HGVS	NC_000005.9:g.136975644T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000128513.1,