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rs11555566

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs11555566(A;G)
Make rs11555566(G;G)
ReferenceGRCh38 38.1/142
Chromosome20
Position44626579
GeneADA
is asnp
is mentioned by
dbSNPrs11555566
ebirs11555566
HLIrs11555566
Exacrs11555566
Varsomers11555566
Maprs11555566
PheGenIrs11555566
hapmaprs11555566
1000 genomesrs11555566
hgdprs11555566
ensemblrs11555566
gopubmedrs11555566
geneviewrs11555566
scholarrs11555566
googlers11555566
pharmgkbrs11555566
gwascentralrs11555566
openSNPrs11555566
23andMers11555566
23andMe allrs11555566
SNP Nexus

SNPshotrs11555566
SNPdbers11555566
MSV3drs11555566
GWAS Ctlgrs11555566
GMAF0.0427
Max Magnitude0
OMIM608958
Desc
Variant0001
Relatedalso


ClinVar
Risk rs11555566(G;G)
Alt rs11555566(G;G)
Reference rs11555566(A;A)
Significance Unknown
Disease Severe combined immunodeficiency due to ADA deficiency
Variation info
Gene ADA
CLNDBN Severe combined immunodeficiency due to ADA deficiency
Reversed 1
HGVS NC_000020.10:g.43255220T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002031.2,



GET Evidence
ADA-K80R
aa_change Lys80Arg
aa_change_short K80R
impact benign
qualified_impact Low clinical importance, Likely benign
overall_frequency 0.0635806
summary This variant has a 3.5% allele frequency in 1000 genomes data. Although OMIM links this to disease, the paper they reference uses in vitro data to conclude that this is a functionally neutral polymorphism.