rs199422328

Orientation

minus

Stabilized

minus

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

Make rs199422328(G;T)

Make rs199422328(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

44626597

Gene

ADA

is a	snp
is	mentioned by
dbSNP	rs199422328
dbSNP (classic)	rs199422328
ClinGen	rs199422328
ebi	rs199422328
HLI	rs199422328
Exac	rs199422328
Gnomad	rs199422328
Varsome	rs199422328
LitVar	rs199422328
Map	rs199422328
PheGenI	rs199422328
Biobank	rs199422328
1000 genomes	rs199422328
hgdp	rs199422328
ensembl	rs199422328
geneview	rs199422328
scholar	rs199422328
google	rs199422328
pharmgkb	rs199422328
gwascentral	rs199422328
openSNP	rs199422328
23andMe	rs199422328
SNPshot	rs199422328
SNPdbe	rs199422328
MSV3d	rs199422328
GWAS Ctlg	rs199422328

Max Magnitude

0

ClinVar
Risk	rs199422328(T;T)
Alt	rs199422328(T;T)
Reference	Rs199422328(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.43255238C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002054.2,