rs121918551

Orientation

minus

Stabilized

minus

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

Make rs121918551(C;T)

Make rs121918551(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

53308095

Gene

AAAS

is a	snp
is	mentioned by
dbSNP	rs121918551
dbSNP (classic)	rs121918551
ClinGen	rs121918551
ebi	rs121918551
HLI	rs121918551
Exac	rs121918551
Gnomad	rs121918551
Varsome	rs121918551
LitVar	rs121918551
Map	rs121918551
PheGenI	rs121918551
Biobank	rs121918551
1000 genomes	rs121918551
hgdp	rs121918551
ensembl	rs121918551
geneview	rs121918551
scholar	rs121918551
google	rs121918551
pharmgkb	rs121918551
gwascentral	rs121918551
openSNP	rs121918551
23andMe	rs121918551
SNPshot	rs121918551
SNPdbe	rs121918551
MSV3d	rs121918551
GWAS Ctlg	rs121918551

Max Magnitude

0

OMIM	605378
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121918551(T;T)
Alt	rs121918551(T;T)
Reference	Rs121918551(C;C)
Significance	Pathogenic
Disease	Achalasia-alacrima syndrome
Variation	info
Gene	AAAS
CLNDBN	Achalasia-alacrima syndrome
Reversed	1
HGVS	NC_000012.11:g.53701879G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000005350.2,