rs121918549

Orientation

minus

Stabilized

minus

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

Make rs121918549(A;A)

Make rs121918549(A;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

53321423

Gene

AAAS

is a	snp
is	mentioned by
dbSNP	rs121918549
dbSNP (classic)	rs121918549
ClinGen	rs121918549
ebi	rs121918549
HLI	rs121918549
Exac	rs121918549
Gnomad	rs121918549
Varsome	rs121918549
LitVar	rs121918549
Map	rs121918549
PheGenI	rs121918549
Biobank	rs121918549
1000 genomes	rs121918549
hgdp	rs121918549
ensembl	rs121918549
geneview	rs121918549
scholar	rs121918549
google	rs121918549
pharmgkb	rs121918549
gwascentral	rs121918549
openSNP	rs121918549
23andMe	rs121918549
SNPshot	rs121918549
SNPdbe	rs121918549
MSV3d	rs121918549
GWAS Ctlg	rs121918549

Max Magnitude

0

OMIM	605378
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121918549(A;A)
Alt	rs121918549(A;A)
Reference	Rs121918549(C;C)
Significance	Pathogenic
Disease	Glucocorticoid deficiency with achalasia not provided
Variation	info
Gene	AAAS
CLNDBN	Glucocorticoid deficiency with achalasia not provided
Reversed	1
HGVS	NC_000012.11:g.53715207G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005347.3, RCV000255807.2,