rs73598374

minus

Geno	Mag	Summary
(C;C)	0	common on affy axiom data
(G;G)	0	common in clinvar

Make rs73598374(A;A)

Make rs73598374(A;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

44651586

Gene

ADA

is a	snp
is	mentioned by
dbSNP	rs73598374
dbSNP (classic)	rs73598374
ClinGen	rs73598374
ebi	rs73598374
HLI	rs73598374
Exac	rs73598374
Gnomad	rs73598374
Varsome	rs73598374
LitVar	rs73598374
Map	rs73598374
PheGenI	rs73598374
Biobank	rs73598374
1000 genomes	rs73598374
hgdp	rs73598374
ensembl	rs73598374
geneview	rs73598374
scholar	rs73598374
google	rs73598374
pharmgkb	rs73598374
gwascentral	rs73598374
openSNP	rs73598374
23andMe	rs73598374
SNPshot	rs73598374
SNPdbe	rs73598374
MSV3d	rs73598374
GWAS Ctlg	rs73598374

GMAF

0.04408

Max Magnitude

0

[PMID 20522203] Age- and gender-specific association between ADA (22G>A) and TNF-alpha (-308G>A) genetic polymorphisms

OMIM	102700
Desc
Variant
Related	also

OMIM	608958
Desc
Variant	0021
Related	also

[PMID 21865054] Age- and gender-specific epistasis between ADA and TNF-? influences human life-expectancy

ClinVar
Risk	rs73598374(A;A)
Alt	rs73598374(A;A)
Reference	Rs73598374(G;G)
Significance	Pathogenic
Disease	Adenosine deaminase 2 allozyme Severe combined immunodeficiency due to ADA deficiency
Variation	info
Gene	ADA
CLNDBN	Adenosine deaminase 2 allozyme Severe combined immunodeficiency due to ADA deficiency
Reversed	1
HGVS	NC_000020.10:g.43280227C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002050.2, RCV000351193.1,

[PMID 21734253] Functional ADA polymorphism increases sleep depth and reduces vigilant attention in humans.

[PMID 24896148 ] The functional polymorphism rs73598374:G>A (p.Asp8Asn) of the ADA gene is associated with telomerase activity and leukocyte telomere length