rs587776534

Orientation

plus

Stabilized

minus

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

Make rs587776534(C;G)

Reference

GRCh38 38.1/142

Chromosome

20

Position

44651574

Gene

ADA

is a	snp
is	mentioned by
dbSNP	rs587776534
dbSNP (classic)	rs587776534
ClinGen	rs587776534
ebi	rs587776534
HLI	rs587776534
Exac	rs587776534
Gnomad	rs587776534
Varsome	rs587776534
LitVar	rs587776534
Map	rs587776534
PheGenI	rs587776534
Biobank	rs587776534
1000 genomes	rs587776534
hgdp	rs587776534
ensembl	rs587776534
geneview	rs587776534
scholar	rs587776534
google	rs587776534
pharmgkb	rs587776534
gwascentral	rs587776534
openSNP	rs587776534
23andMe	rs587776534
SNPshot	rs587776534
SNPdbe	rs587776534
MSV3d	rs587776534
GWAS Ctlg	rs587776534

Max Magnitude

0

ClinVar
Risk	Rs587776534(C;C)
Alt	Rs587776534(C;C)
Reference	Rs587776534(G;G)
Significance	Pathogenic
Disease	Severe combined immunodeficiency due to ADA deficiency
Variation	info
Gene	ADA
CLNDBN	Severe combined immunodeficiency due to ADA deficiency
Reversed	1
HGVS	NC_000020.10:g.43280215C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002053.2,