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rs1466731

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs1466731(A;A)
Make rs1466731(A;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position154602344
GeneADAR
is asnp
is mentioned by
dbSNPrs1466731
ebirs1466731
HLIrs1466731
Exacrs1466731
Varsomers1466731
Maprs1466731
PheGenIrs1466731
hapmaprs1466731
1000 genomesrs1466731
hgdprs1466731
ensemblrs1466731
gopubmedrs1466731
geneviewrs1466731
scholarrs1466731
googlers1466731
pharmgkbrs1466731
gwascentralrs1466731
openSNPrs1466731
23andMers1466731
23andMe allrs1466731
SNP Nexus

SNPshotrs1466731
SNPdbers1466731
MSV3drs1466731
GWAS Ctlgrs1466731
GMAF0.002296
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene ADAR
allele C
frequency 1
sift TOLERATED
HuRef 1103675228845
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.



Neighborrs2229857
Distance853


GET Evidence
ADAR-R100G
aa_change Arg100Gly
aa_change_short R100G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.995538
summary