rs121908737

Orientation

minus

Stabilized

minus

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

Make rs121908737(A;A)

Make rs121908737(A;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

44625601

Gene

ADA

is a	snp
is	mentioned by
dbSNP	rs121908737
dbSNP (classic)	rs121908737
ClinGen	rs121908737
ebi	rs121908737
HLI	rs121908737
Exac	rs121908737
Gnomad	rs121908737
Varsome	rs121908737
LitVar	rs121908737
Map	rs121908737
PheGenI	rs121908737
Biobank	rs121908737
1000 genomes	rs121908737
hgdp	rs121908737
ensembl	rs121908737
geneview	rs121908737
scholar	rs121908737
google	rs121908737
pharmgkb	rs121908737
gwascentral	rs121908737
openSNP	rs121908737
23andMe	rs121908737
SNPshot	rs121908737
SNPdbe	rs121908737
MSV3d	rs121908737
GWAS Ctlg	rs121908737

Max Magnitude

0

OMIM	608958
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121908737(A;A)
Alt	rs121908737(A;A)
Reference	Rs121908737(G;G)
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.43254242C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000002040.2, RCV000059104.1,

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