rs746052951

Orientation

plus

Stabilized

plus

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

Make rs746052951(C;T)

Make rs746052951(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

44622828

Gene

ADA

is a	snp
is	mentioned by
dbSNP	rs746052951
dbSNP (classic)	rs746052951
ClinGen	rs746052951
ebi	rs746052951
HLI	rs746052951
Exac	rs746052951
Gnomad	rs746052951
Varsome	rs746052951
LitVar	rs746052951
Map	rs746052951
PheGenI	rs746052951
Biobank	rs746052951
1000 genomes	rs746052951
hgdp	rs746052951
ensembl	rs746052951
geneview	rs746052951
scholar	rs746052951
google	rs746052951
pharmgkb	rs746052951
gwascentral	rs746052951
openSNP	rs746052951
23andMe	rs746052951
SNPshot	rs746052951
SNPdbe	rs746052951
MSV3d	rs746052951
GWAS Ctlg	rs746052951

Max Magnitude

0

ClinVar
Risk	rs746052951(T;T)
Alt	rs746052951(T;T)
Reference	Rs746052951(C;C)
Significance	Probable-Pathogenic
Disease	Severe combined immunodeficiency due to ADA deficiency
Variation	info
Gene	ADA
CLNDBN	Severe combined immunodeficiency due to ADA deficiency
Reversed	0
HGVS	NC_000020.10:g.43251469C>T
CLNSRC
CLNACC	RCV000200442.1,