rs374259530

Orientation

plus

Stabilized

plus

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

Make rs374259530(C;C)

Make rs374259530(C;T)

Reference

GRCh38.p2 38.2/147

Chromosome

22

Position

40350018

Gene

ADSL

is a	snp
is	mentioned by
dbSNP	rs374259530
dbSNP (classic)	rs374259530
ClinGen	rs374259530
ebi	rs374259530
HLI	rs374259530
Exac	rs374259530
Gnomad	rs374259530
Varsome	rs374259530
LitVar	rs374259530
Map	rs374259530
PheGenI	rs374259530
Biobank	rs374259530
1000 genomes	rs374259530
hgdp	rs374259530
ensembl	rs374259530
geneview	rs374259530
scholar	rs374259530
google	rs374259530
pharmgkb	rs374259530
gwascentral	rs374259530
openSNP	rs374259530
23andMe	rs374259530
SNPshot	rs374259530
SNPdbe	rs374259530
MSV3d	rs374259530
GWAS Ctlg	rs374259530

Max Magnitude

0

ClinVar
Risk	rs374259530(C;C)
Alt	rs374259530(C;C)
Reference	Rs374259530(T;T)
Significance	Pathogenic
Disease	not provided Adenylosuccinate lyase deficiency Difficulty standing Generalized myoclonic seizures Inability to walk Progressive neurologic deterioration Severe global developmental delay
Variation	info
Gene	ADSL
CLNDBN	not provided Adenylosuccinate lyase deficiency Difficulty standing Generalized myoclonic seizures Inability to walk Progressive neurologic deterioration Severe global developmental delay
Reversed	0
HGVS	NC_000022.10:g.40746022T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000186703.1, RCV000193076.1, RCV000415212.1,