rs199422327

Orientation

minus

Stabilized

minus

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

Make rs199422327(G;G)

Make rs199422327(G;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

44621082

Gene

ADA

is a	snp
is	mentioned by
dbSNP	rs199422327
dbSNP (classic)	rs199422327
ClinGen	rs199422327
ebi	rs199422327
HLI	rs199422327
Exac	rs199422327
Gnomad	rs199422327
Varsome	rs199422327
LitVar	rs199422327
Map	rs199422327
PheGenI	rs199422327
Biobank	rs199422327
1000 genomes	rs199422327
hgdp	rs199422327
ensembl	rs199422327
geneview	rs199422327
scholar	rs199422327
google	rs199422327
pharmgkb	rs199422327
gwascentral	rs199422327
openSNP	rs199422327
23andMe	rs199422327
SNPshot	rs199422327
SNPdbe	rs199422327
MSV3d	rs199422327
GWAS Ctlg	rs199422327

Max Magnitude

0

ClinVar
Risk	rs199422327(G;G)
Alt	rs199422327(G;G)
Reference	Rs199422327(T;T)
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.43249723A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002035.2,