rs137853208

Orientation

minus

Stabilized

minus

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

Make rs137853208(C;T)

Make rs137853208(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

50504025

Gene

DDC

is a	snp
is	mentioned by
dbSNP	rs137853208
dbSNP (classic)	rs137853208
ClinGen	rs137853208
ebi	rs137853208
HLI	rs137853208
Exac	rs137853208
Gnomad	rs137853208
Varsome	rs137853208
LitVar	rs137853208
Map	rs137853208
PheGenI	rs137853208
Biobank	rs137853208
1000 genomes	rs137853208
hgdp	rs137853208
ensembl	rs137853208
geneview	rs137853208
scholar	rs137853208
google	rs137853208
pharmgkb	rs137853208
gwascentral	rs137853208
openSNP	rs137853208
23andMe	rs137853208
SNPshot	rs137853208
SNPdbe	rs137853208
MSV3d	rs137853208
GWAS Ctlg	rs137853208

Max Magnitude

0

OMIM	107930
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137853208(T;T)
Alt	rs137853208(T;T)
Reference	Rs137853208(C;C)
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.50571723G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019388.24,