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rs73598374

From SNPedia

Orientationminus
Stabilizedminus
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)
ReferenceGRCh38 38.1/141
Chromosome20
Position44651586
GeneADA
is asnp
is mentioned by
dbSNPrs73598374
ebirs73598374
HLIrs73598374
Exacrs73598374
Varsomers73598374
Maprs73598374
PheGenIrs73598374
hapmaprs73598374
1000 genomesrs73598374
hgdprs73598374
ensemblrs73598374
gopubmedrs73598374
geneviewrs73598374
scholarrs73598374
googlers73598374
pharmgkbrs73598374
gwascentralrs73598374
openSNPrs73598374
23andMers73598374
23andMe allrs73598374
SNP Nexus

SNPshotrs73598374
SNPdbers73598374
MSV3drs73598374
GWAS Ctlgrs73598374
GMAF0.04408
Max Magnitude0

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

OMIM102700
Desc
Variant
Relatedalso
OMIM608958
Desc
Variant0021
Relatedalso


[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
Variation info
Gene ADA
CLNDBN Adenosine deaminase 2 allozyme
Reversed 1
HGVS NC_000020.10:g.43280227C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002050.2,



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


GET Evidence
ADA-D8N
aa_change Asp8Asn
aa_change_short D8N
impact benign
qualified_impact Low clinical importance, Likely benign
overall_frequency 0.0295359
summary This common variant is reported to reduce adenosine deaminase enzyme activity. It has been associated with an increased tendency for non-REM sleep -- more slow wave sleep, less nocturnal wakings, and a stronger negative impact of sleep deprivation. A role for this gene and variant was previously proposed for autism susceptibility, but this is controversial and was not replicated by later studies.



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