rs137852634

Orientation

minus

Stabilized

minus

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

Make rs137852634(C;T)

Make rs137852634(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

6348981

Gene	LOC107984500, SCNN1A

is a	snp
is	mentioned by
dbSNP	rs137852634
dbSNP (classic)	rs137852634
ClinGen	rs137852634
ebi	rs137852634
HLI	rs137852634
Exac	rs137852634
Gnomad	rs137852634
Varsome	rs137852634
LitVar	rs137852634
Map	rs137852634
PheGenI	rs137852634
Biobank	rs137852634
1000 genomes	rs137852634
hgdp	rs137852634
ensembl	rs137852634
geneview	rs137852634
scholar	rs137852634
google	rs137852634
pharmgkb	rs137852634
gwascentral	rs137852634
openSNP	rs137852634
23andMe	rs137852634
SNPshot	rs137852634
SNPdbe	rs137852634
MSV3d	rs137852634
GWAS Ctlg	rs137852634

Max Magnitude

0

OMIM	600228
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137852634(G;G) rs137852634(T;T)
Alt	rs137852634(G;G) rs137852634(T;T)
Reference	Rs137852634(C;C)
Significance	Pathogenic
Disease	Pseudohypoaldosteronism type 1 autosomal recessive
Variation	info
Gene	SCNN1A
CLNDBN	Pseudohypoaldosteronism type 1 autosomal recessive
Reversed	1
HGVS	NC_000012.11:g.6458147G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009846.2,