rs199469623

Orientation

minus

Stabilized

minus

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

Make rs199469623(A;A)

Make rs199469623(A;C)

Reference

GRCh38 38.1/141

Chromosome

5

Position

137709761

Gene

KLHL3

is a	snp
is	mentioned by
dbSNP	rs199469623
dbSNP (classic)	rs199469623
ClinGen	rs199469623
ebi	rs199469623
HLI	rs199469623
Exac	rs199469623
Gnomad	rs199469623
Varsome	rs199469623
LitVar	rs199469623
Map	rs199469623
PheGenI	rs199469623
Biobank	rs199469623
1000 genomes	rs199469623
hgdp	rs199469623
ensembl	rs199469623
geneview	rs199469623
scholar	rs199469623
google	rs199469623
pharmgkb	rs199469623
gwascentral	rs199469623
openSNP	rs199469623
23andMe	rs199469623
SNPshot	rs199469623
SNPdbe	rs199469623
MSV3d	rs199469623
GWAS Ctlg	rs199469623

Max Magnitude

0

ClinVar
Risk	rs199469623(A;A) rs199469623(T;T)
Alt	rs199469623(A;A) rs199469623(T;T)
Reference	Rs199469623(C;C)
Significance	Pathogenic
Disease	Pseudohypoaldosteronism
Variation	info
Gene	KLHL3
CLNDBN	Pseudohypoaldosteronism, type 2
Reversed	1
HGVS	NC_000005.9:g.137045450G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000128504.1,