rs121912562

Orientation

minus

Stabilized

minus

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

Make rs121912562(C;T)

Make rs121912562(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

148435252

Gene

NR3C2

is a	snp
is	mentioned by
dbSNP	rs121912562
dbSNP (classic)	rs121912562
ClinGen	rs121912562
ebi	rs121912562
HLI	rs121912562
Exac	rs121912562
Gnomad	rs121912562
Varsome	rs121912562
LitVar	rs121912562
Map	rs121912562
PheGenI	rs121912562
Biobank	rs121912562
1000 genomes	rs121912562
hgdp	rs121912562
ensembl	rs121912562
geneview	rs121912562
scholar	rs121912562
google	rs121912562
pharmgkb	rs121912562
gwascentral	rs121912562
openSNP	rs121912562
23andMe	rs121912562
SNPshot	rs121912562
SNPdbe	rs121912562
MSV3d	rs121912562
GWAS Ctlg	rs121912562

GMAF

0.0004591

Max Magnitude

0

OMIM	600983
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121912562(G;G) rs121912562(T;T)
Alt	rs121912562(G;G) rs121912562(T;T)
Reference	Rs121912562(C;C)
Significance	Pathogenic
Disease	Pseudohypoaldosteronism type 1 autosomal dominant
Variation	info
Gene	NR3C2
CLNDBN	Pseudohypoaldosteronism type 1 autosomal dominant
Reversed	1
HGVS	NC_000004.11:g.149356404G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009086.3,