rs137853212

Orientation

minus

Stabilized

minus

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

Make rs137853212(A;A)

Make rs137853212(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

50499201

Gene

DDC

is a	snp
is	mentioned by
dbSNP	rs137853212
dbSNP (classic)	rs137853212
ClinGen	rs137853212
ebi	rs137853212
HLI	rs137853212
Exac	rs137853212
Gnomad	rs137853212
Varsome	rs137853212
LitVar	rs137853212
Map	rs137853212
PheGenI	rs137853212
Biobank	rs137853212
1000 genomes	rs137853212
hgdp	rs137853212
ensembl	rs137853212
geneview	rs137853212
scholar	rs137853212
google	rs137853212
pharmgkb	rs137853212
gwascentral	rs137853212
openSNP	rs137853212
23andMe	rs137853212
SNPshot	rs137853212
SNPdbe	rs137853212
MSV3d	rs137853212
GWAS Ctlg	rs137853212

Max Magnitude

0

OMIM	107930
Desc
Variant	0006
Related	also

ClinVar
Risk	rs137853212(A;A)
Alt	rs137853212(A;A)
Reference	Rs137853212(G;G)
Significance	Pathogenic
Disease	Deficiency of aromatic-L-amino-acid decarboxylase
Variation	info
Gene	DDC
CLNDBN	Deficiency of aromatic-L-amino-acid decarboxylase
Reversed	1
HGVS	NC_000007.13:g.50566899C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019392.23,