rs121908736

Orientation

minus

Stabilized

minus

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

Make rs121908736(C;T)

Make rs121908736(T;T)

Reference

GRCh38 38.1/142

Chromosome

20

Position

44626592

Gene

ADA

is a	snp
is	mentioned by
dbSNP	rs121908736
dbSNP (classic)	rs121908736
ClinGen	rs121908736
ebi	rs121908736
HLI	rs121908736
Exac	rs121908736
Gnomad	rs121908736
Varsome	rs121908736
LitVar	rs121908736
Map	rs121908736
PheGenI	rs121908736
Biobank	rs121908736
1000 genomes	rs121908736
hgdp	rs121908736
ensembl	rs121908736
geneview	rs121908736
scholar	rs121908736
google	rs121908736
pharmgkb	rs121908736
gwascentral	rs121908736
openSNP	rs121908736
23andMe	rs121908736
SNPshot	rs121908736
SNPdbe	rs121908736
MSV3d	rs121908736
GWAS Ctlg	rs121908736

GMAF

0.002296

Max Magnitude

0

OMIM	608958
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121908736(T;T)
Alt	rs121908736(T;T)
Reference	Rs121908736(C;C)
Significance	Pathogenic
Disease	Partial adenosine deaminase deficiency Severe combined immunodeficiency due to ADA deficiency not specified
Variation	info
Gene	ADA
CLNDBN	Partial adenosine deaminase deficiency Severe combined immunodeficiency due to ADA deficiency not specified
Reversed	1
HGVS	NC_000020.10:g.43255233G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000002039.2, RCV000059096.1, RCV000482569.1,

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