rs121908739

Orientation

minus

Stabilized

minus

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

Make rs121908739(C;C)

Make rs121908739(C;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

44626498

Gene

ADA

is a	snp
is	mentioned by
dbSNP	rs121908739
dbSNP (classic)	rs121908739
ClinGen	rs121908739
ebi	rs121908739
HLI	rs121908739
Exac	rs121908739
Gnomad	rs121908739
Varsome	rs121908739
LitVar	rs121908739
Map	rs121908739
PheGenI	rs121908739
Biobank	rs121908739
1000 genomes	rs121908739
hgdp	rs121908739
ensembl	rs121908739
geneview	rs121908739
scholar	rs121908739
google	rs121908739
pharmgkb	rs121908739
gwascentral	rs121908739
openSNP	rs121908739
23andMe	rs121908739
SNPshot	rs121908739
SNPdbe	rs121908739
MSV3d	rs121908739
GWAS Ctlg	rs121908739

Max Magnitude

0

OMIM	608958
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121908739(C;C)
Alt	rs121908739(C;C)
Reference	Rs121908739(T;T)
Significance	Pathogenic
Disease	Severe combined immunodeficiency due to ADA deficiency not provided
Variation	info
Gene	ADA
CLNDBN	Severe combined immunodeficiency due to ADA deficiency not provided
Reversed	1
HGVS	NC_000020.10:g.43255139A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000002042.3, RCV000255602.1,

[PMID 2166947] Hot spot mutations in adenosine deaminase deficiency.