rs121908717

Orientation

minus

Stabilized

minus

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

Make rs121908717(C;T)

Make rs121908717(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

44626517

Gene

ADA

is a	snp
is	mentioned by
dbSNP	rs121908717
dbSNP (classic)	rs121908717
ClinGen	rs121908717
ebi	rs121908717
HLI	rs121908717
Exac	rs121908717
Gnomad	rs121908717
Varsome	rs121908717
LitVar	rs121908717
Map	rs121908717
PheGenI	rs121908717
Biobank	rs121908717
1000 genomes	rs121908717
hgdp	rs121908717
ensembl	rs121908717
geneview	rs121908717
scholar	rs121908717
google	rs121908717
pharmgkb	rs121908717
gwascentral	rs121908717
openSNP	rs121908717
23andMe	rs121908717
SNPshot	rs121908717
SNPdbe	rs121908717
MSV3d	rs121908717
GWAS Ctlg	rs121908717

Max Magnitude

0

OMIM	608958
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121908717(T;T)
Alt	rs121908717(T;T)
Reference	Rs121908717(C;C)
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.43255158G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000002032.3,

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