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rs199692405

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;T) 4.9 severe eczema possible
(G;T) 4.9 severe eczema possible
(T;T) 0 common/normal
Make rs199692405(C;C)
Make rs199692405(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position2947624
GeneCARD11
is asnp
is mentioned by
dbSNPrs199692405
dbSNP (old)rs199692405
ClinGenrs199692405
ebirs199692405
HLIrs199692405
Exacrs199692405
Gnomadrs199692405
Varsomers199692405
LitVarrs199692405
Maprs199692405
PheGenIrs199692405
Biobankrs199692405
1000 genomesrs199692405
hgdprs199692405
ensemblrs199692405
gopubmedrs199692405
geneviewrs199692405
scholarrs199692405
googlers199692405
pharmgkbrs199692405
gwascentralrs199692405
openSNPrs199692405
23andMers199692405
23andMe allrs199692405
SNPshotrs199692405
SNPdbers199692405
MSV3drs199692405
GWAS Ctlgrs199692405
Max Magnitude4.9

rs199692405 is a SNP in the CARD11 gene on chromosome 7. The c.171A>G variant is a synonymous variant of no known importance.

The A>T and A>C are (in cDNA orientation, not dbSNP orientation) mutations leading to a dominant, mutant protein known as p.Glu57Asp (E57D), which is reported to be pathogenic for an atopic dermatitis, otherwise known as severe eczema.10.1038/ng.3898