rs267606634

Orientation

minus

Stabilized

minus

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

Make rs267606634(A;G)

Make rs267606634(G;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

44626528

Gene

ADA

is a	snp
is	mentioned by
dbSNP	rs267606634
dbSNP (classic)	rs267606634
ClinGen	rs267606634
ebi	rs267606634
HLI	rs267606634
Exac	rs267606634
Gnomad	rs267606634
Varsome	rs267606634
LitVar	rs267606634
Map	rs267606634
PheGenI	rs267606634
Biobank	rs267606634
1000 genomes	rs267606634
hgdp	rs267606634
ensembl	rs267606634
geneview	rs267606634
scholar	rs267606634
google	rs267606634
pharmgkb	rs267606634
gwascentral	rs267606634
openSNP	rs267606634
23andMe	rs267606634
SNPshot	rs267606634
SNPdbe	rs267606634
MSV3d	rs267606634
GWAS Ctlg	rs267606634

Max Magnitude

0

ClinVar
Risk	rs267606634(G;G) rs267606634(T;T)
Alt	rs267606634(G;G) rs267606634(T;T)
Reference	Rs267606634(A;A)
Significance	Pathogenic
Disease	Severe combined immunodeficiency
Variation	info
Gene	ADA
CLNDBN	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Reversed	1
HGVS	NC_000020.10:g.43255169T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002058.3,