rs119450942

Orientation

plus

Stabilized

plus

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

Make rs119450942(C;G)

Make rs119450942(G;G)

Reference

GRCh38 38.1/141

Chromosome

22

Position

40349976

Gene

ADSL

is a	snp
is	mentioned by
dbSNP	rs119450942
dbSNP (classic)	rs119450942
ClinGen	rs119450942
ebi	rs119450942
HLI	rs119450942
Exac	rs119450942
Gnomad	rs119450942
Varsome	rs119450942
LitVar	rs119450942
Map	rs119450942
PheGenI	rs119450942
Biobank	rs119450942
1000 genomes	rs119450942
hgdp	rs119450942
ensembl	rs119450942
geneview	rs119450942
scholar	rs119450942
google	rs119450942
pharmgkb	rs119450942
gwascentral	rs119450942
openSNP	rs119450942
23andMe	rs119450942
SNPshot	rs119450942
SNPdbe	rs119450942
MSV3d	rs119450942
GWAS Ctlg	rs119450942

Max Magnitude

0

OMIM	608222
Desc
Variant	0003
Related	also

ClinVar
Risk	rs119450942(G;G)
Alt	rs119450942(G;G)
Reference	Rs119450942(C;C)
Significance	Pathogenic
Disease	Adenylosuccinate lyase deficiency
Variation	info
Gene	ADSL
CLNDBN	Adenylosuccinate lyase deficiency
Reversed	0
HGVS	NC_000022.10:g.40745980C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002567.5,