rs199469624

Orientation

minus

Stabilized

minus

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

Make rs199469624(A;T)

Make rs199469624(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

137709759

Gene

KLHL3

is a	snp
is	mentioned by
dbSNP	rs199469624
dbSNP (classic)	rs199469624
ClinGen	rs199469624
ebi	rs199469624
HLI	rs199469624
Exac	rs199469624
Gnomad	rs199469624
Varsome	rs199469624
LitVar	rs199469624
Map	rs199469624
PheGenI	rs199469624
Biobank	rs199469624
1000 genomes	rs199469624
hgdp	rs199469624
ensembl	rs199469624
geneview	rs199469624
scholar	rs199469624
google	rs199469624
pharmgkb	rs199469624
gwascentral	rs199469624
openSNP	rs199469624
23andMe	rs199469624
SNPshot	rs199469624
SNPdbe	rs199469624
MSV3d	rs199469624
GWAS Ctlg	rs199469624

Max Magnitude

0

ClinVar
Risk	rs199469624(G;G) rs199469624(T;T)
Alt	rs199469624(G;G) rs199469624(T;T)
Reference	Rs199469624(A;A)
Significance	Pathogenic
Disease	Pseudohypoaldosteronism
Variation	info
Gene	KLHL3
CLNDBN	Pseudohypoaldosteronism, type 2
Reversed	1
HGVS	NC_000005.9:g.137045448T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000128510.1,