rs267606635

Orientation

minus

Stabilized

minus

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

Make rs267606635(C;G)

Make rs267606635(G;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

44626502

Gene

ADA

is a	snp
is	mentioned by
dbSNP	rs267606635
dbSNP (classic)	rs267606635
ClinGen	rs267606635
ebi	rs267606635
HLI	rs267606635
Exac	rs267606635
Gnomad	rs267606635
Varsome	rs267606635
LitVar	rs267606635
Map	rs267606635
PheGenI	rs267606635
Biobank	rs267606635
1000 genomes	rs267606635
hgdp	rs267606635
ensembl	rs267606635
geneview	rs267606635
scholar	rs267606635
google	rs267606635
pharmgkb	rs267606635
gwascentral	rs267606635
openSNP	rs267606635
23andMe	rs267606635
SNPshot	rs267606635
SNPdbe	rs267606635
MSV3d	rs267606635
GWAS Ctlg	rs267606635

Max Magnitude

0

ClinVar
Risk	rs267606635(G;G)
Alt	rs267606635(G;G)
Reference	Rs267606635(C;C)
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.43255143G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002058.3,