rs387906267

Orientation

minus

Stabilized

minus

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

Make rs387906267(A;G)

Make rs387906267(G;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

44626601

Gene

ADA

is a	snp
is	mentioned by
dbSNP	rs387906267
dbSNP (classic)	rs387906267
ClinGen	rs387906267
ebi	rs387906267
HLI	rs387906267
Exac	rs387906267
Gnomad	rs387906267
Varsome	rs387906267
LitVar	rs387906267
Map	rs387906267
PheGenI	rs387906267
Biobank	rs387906267
1000 genomes	rs387906267
hgdp	rs387906267
ensembl	rs387906267
geneview	rs387906267
scholar	rs387906267
google	rs387906267
pharmgkb	rs387906267
gwascentral	rs387906267
openSNP	rs387906267
23andMe	rs387906267
SNPshot	rs387906267
SNPdbe	rs387906267
MSV3d	rs387906267
GWAS Ctlg	rs387906267

Max Magnitude

0

ClinVar
Risk	rs387906267(G;G)
Alt	rs387906267(G;G)
Reference	Rs387906267(A;A)
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.43255242T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002046.2,