rs121908740

Orientation

minus

Stabilized

minus

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

Make rs121908740(C;T)

Make rs121908740(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

44623054

Gene

ADA

is a	snp
is	mentioned by
dbSNP	rs121908740
dbSNP (classic)	rs121908740
ClinGen	rs121908740
ebi	rs121908740
HLI	rs121908740
Exac	rs121908740
Gnomad	rs121908740
Varsome	rs121908740
LitVar	rs121908740
Map	rs121908740
PheGenI	rs121908740
Biobank	rs121908740
1000 genomes	rs121908740
hgdp	rs121908740
ensembl	rs121908740
geneview	rs121908740
scholar	rs121908740
google	rs121908740
pharmgkb	rs121908740
gwascentral	rs121908740
openSNP	rs121908740
23andMe	rs121908740
SNPshot	rs121908740
SNPdbe	rs121908740
MSV3d	rs121908740
GWAS Ctlg	rs121908740

Max Magnitude

0

OMIM	608958
Desc
Variant	0014
Related	also

ClinVar
Risk	rs121908740(T;T)
Alt	rs121908740(T;T)
Reference	Rs121908740(C;C)
Significance	Pathogenic
Disease	Partial adenosine deaminase deficiency Severe combined immunodeficiency due to ADA deficiency
Variation	info
Gene	ADA
CLNDBN	Partial adenosine deaminase deficiency Severe combined immunodeficiency due to ADA deficiency
Reversed	1
HGVS	NC_000020.10:g.43251695G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000002043.2, RCV000059111.1,

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