rs28941471

Orientation

plus

Stabilized

plus

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

Make rs28941471(A;A)

Make rs28941471(A;G)

Reference

GRCh38 38.1/141

Chromosome

22

Position

40358950

Gene

ADSL

is a	snp
is	mentioned by
dbSNP	rs28941471
dbSNP (classic)	rs28941471
ClinGen	rs28941471
ebi	rs28941471
HLI	rs28941471
Exac	rs28941471
Gnomad	rs28941471
Varsome	rs28941471
LitVar	rs28941471
Map	rs28941471
PheGenI	rs28941471
Biobank	rs28941471
1000 genomes	rs28941471
hgdp	rs28941471
ensembl	rs28941471
geneview	rs28941471
scholar	rs28941471
google	rs28941471
pharmgkb	rs28941471
gwascentral	rs28941471
openSNP	rs28941471
23andMe	rs28941471
SNPshot	rs28941471
SNPdbe	rs28941471
MSV3d	rs28941471
GWAS Ctlg	rs28941471

Max Magnitude

0

OMIM	608222
Desc	ADENYLOSUCCINASE DEFICIENCY
Variant	0005
Related	also

ClinVar
Risk	rs28941471(A;A)
Alt	rs28941471(A;A)
Reference	Rs28941471(G;G)
Significance	Pathogenic
Disease	Adenylosuccinate lyase deficiency not provided
Variation	info
Gene	ADSL
CLNDBN	Adenylosuccinate lyase deficiency not provided
Reversed	0
HGVS	NC_000022.10:g.40754954G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002569.4, RCV000186674.2,