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rs16910526

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common on affy axiom data
(C;C) 3
Make rs16910526(A;C)
ReferenceGRCh38 38.1/142
Chromosome12
Position10118488
GeneCLEC7A
is asnp
is mentioned by
dbSNPrs16910526
ebirs16910526
HLIrs16910526
Exacrs16910526
Varsomers16910526
Maprs16910526
PheGenIrs16910526
hapmaprs16910526
1000 genomesrs16910526
hgdprs16910526
ensemblrs16910526
gopubmedrs16910526
geneviewrs16910526
scholarrs16910526
googlers16910526
pharmgkbrs16910526
gwascentralrs16910526
openSNPrs16910526
23andMers16910526
23andMe allrs16910526
SNP Nexus

SNPshotrs16910526
SNPdbers16910526
MSV3drs16910526
GWAS Ctlgrs16910526
GMAF0.03398
Max Magnitude3
? (A;A) (A;C) (C;C) 28
OMIM606264
DescC-TYPE LECTIN DOMAIN FAMILY 7, MEMBER A; CLEC7A
Variant
Relatedalso
OMIM606264
Desc
Variant0001
Relatedalso


ClinVar
Risk rs16910526(G;G)
Alt rs16910526(G;G)
Reference rs16910526(T;T)
Significance Other
Disease Familial chronic mucocutaneous candidiasis Aspergillosis
Variation info
Gene CLEC7A
CLNDBN Familial chronic mucocutaneous candidiasis Aspergillosis, susceptibility to
Reversed 1
HGVS NC_000012.11:g.10271087A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004721.2, RCV000023528.2,



GET Evidence
CLEC7A-Y238X
aa_change Tyr238Stop
aa_change_short Y238X
impact pathogenic
qualified_impact Low clinical importance, Uncertain pathogenic
overall_frequency 0.0632088
summary This variant has been found to impair homan mucosal antifungal defense and was implicated in vulvovaginal candidiasis and mucocutaneous infections in a Dutch family.



[PMID 26963509] Polymorphisms of Dectin-1 and TLR2 Predispose to Invasive Fungal Disease in Patients with Acute Myeloid Leukemia.