Have questions? Visit https://www.reddit.com/r/SNPedia

rs2229857

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs2229857(A;G)
Make rs2229857(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position154601491
GeneADAR
is asnp
is mentioned by
dbSNPrs2229857
ebirs2229857
HLIrs2229857
Exacrs2229857
Varsomers2229857
Maprs2229857
PheGenIrs2229857
hapmaprs2229857
1000 genomesrs2229857
hgdprs2229857
ensemblrs2229857
gopubmedrs2229857
geneviewrs2229857
scholarrs2229857
googlers2229857
pharmgkbrs2229857
gwascentralrs2229857
openSNPrs2229857
23andMers2229857
23andMe allrs2229857
SNP Nexus

SNPshotrs2229857
SNPdbers2229857
MSV3drs2229857
GWAS Ctlgrs2229857
GMAF0.3797
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene ADAR
allele C
frequency 0.333
sift TOLERATED
HuRef 1103675228835
Disease Association Defects in ADAR are a cause of dyschromatosis symmetrica hereditaria (DSH) (MIM:127400); also known as reticulate acropigmentation of Dohi. DSH is a pigmentary genodermatosis of autosomal dominant inheritance characterized by a mixture of hyperpigmented and hypopigmented macules distributed on the dorsal parts of the hands and feet.



Neighborrs1466731
Distance853
[PMID 21939710OA-icon.png] Genetic polymorphisms in host antiviral genes: Associations with humoral and cellular immunity to measles vaccine

[PMID 19434718OA-icon.png] Variants in interferon-alpha pathway genes and response to pegylated interferon-Alpha2a plus ribavirin for treatment of chronic hepatitis C virus infection in the hepatitis C antiviral long-term treatment against cirrhosis trial.


GET Evidence
ADAR-K89R
aa_change Lys89Arg
aa_change_short K89R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency
summary



ClinVar
Risk rs2229857(G;G)
Alt rs2229857(G;G)
Reference rs2229857(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene ADAR
CLNDBN not specified
Reversed 1
HGVS NC_000001.10:g.154573967T>C
CLNSRC
CLNACC RCV000175658.1,