rs121918547

Orientation

minus

Stabilized

minus

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

Make rs121918547(C;T)

Make rs121918547(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

53309158

Gene

AAAS

is a	snp
is	mentioned by
dbSNP	rs121918547
dbSNP (classic)	rs121918547
ClinGen	rs121918547
ebi	rs121918547
HLI	rs121918547
Exac	rs121918547
Gnomad	rs121918547
Varsome	rs121918547
LitVar	rs121918547
Map	rs121918547
PheGenI	rs121918547
Biobank	rs121918547
1000 genomes	rs121918547
hgdp	rs121918547
ensembl	rs121918547
geneview	rs121918547
scholar	rs121918547
google	rs121918547
pharmgkb	rs121918547
gwascentral	rs121918547
openSNP	rs121918547
23andMe	rs121918547
SNPshot	rs121918547
SNPdbe	rs121918547
MSV3d	rs121918547
GWAS Ctlg	rs121918547

GMAF

0.001377

Max Magnitude

0

OMIM	605378
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121918547(G;G) rs121918547(T;T)
Alt	rs121918547(G;G) rs121918547(T;T)
Reference	Rs121918547(C;C)
Significance	Pathogenic
Disease	Glucocorticoid deficiency with achalasia
Variation	info
Gene	AAAS
CLNDBN	Glucocorticoid deficiency with achalasia
Reversed	1
HGVS	NC_000012.11:g.53702942G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005342.3,