rs121908716

Orientation

minus

Stabilized

minus

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

Make rs121908716(A;A)

Make rs121908716(A;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

44623053

Gene

ADA

is a	snp
is	mentioned by
dbSNP	rs121908716
dbSNP (classic)	rs121908716
ClinGen	rs121908716
ebi	rs121908716
HLI	rs121908716
Exac	rs121908716
Gnomad	rs121908716
Varsome	rs121908716
LitVar	rs121908716
Map	rs121908716
PheGenI	rs121908716
Biobank	rs121908716
1000 genomes	rs121908716
hgdp	rs121908716
ensembl	rs121908716
geneview	rs121908716
scholar	rs121908716
google	rs121908716
pharmgkb	rs121908716
gwascentral	rs121908716
openSNP	rs121908716
23andMe	rs121908716
SNPshot	rs121908716
SNPdbe	rs121908716
MSV3d	rs121908716
GWAS Ctlg	rs121908716

Max Magnitude

0

OMIM	608958
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121908716(A;A)
Alt	rs121908716(A;A)
Reference	Rs121908716(G;G)
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.43251694C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000002034.3,

[PMID 3182793] Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts.