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rs2297950

From SNPedia

Polymorphism in AA102 of chitotriosidase (CHIT1)
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs2297950(C;T)
Make rs2297950(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position203225058
GeneCHIT1
is asnp
is mentioned by
dbSNPrs2297950
ebirs2297950
HLIrs2297950
Exacrs2297950
Varsomers2297950
Maprs2297950
PheGenIrs2297950
hapmaprs2297950
1000 genomesrs2297950
hgdprs2297950
ensemblrs2297950
gopubmedrs2297950
geneviewrs2297950
scholarrs2297950
googlers2297950
pharmgkbrs2297950
gwascentralrs2297950
openSNPrs2297950
23andMers2297950
23andMe allrs2297950
SNP Nexus

SNPshotrs2297950
SNPdbers2297950
MSV3drs2297950
GWAS Ctlgrs2297950
GMAF0.3007
Max Magnitude0
? (C;C) (C;T) (T;T) 28

Rs2297950 is a single nucleotide polymorphism at position 102 (Gly102Arg) in the chitotriosidase gene which results in chitotriosidase deficiency, implicated in altered defense against chitin containing organisms and in some inflammatory conditions such as inflammatory bowel disease and asthma.


Venter snp
Source plos
Gene CHIT1
allele T
frequency 0.275
sift AFFECT FUNCTION
HuRef 1103675313976
Disease Association Chitotriosidase (CHIT1) deficiency



OMIM600031
Desc
Variant0004
Relatedalso


ClinVar
Risk rs2297950(T;T)
Alt rs2297950(T;T)
Reference rs2297950(C;C)
Significance Other
Disease Chitotriosidase deficiency
Variation info
Gene CHIT1
CLNDBN Chitotriosidase deficiency
Reversed 0
HGVS NC_000001.10:g.203194186C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010134.3,



GET Evidence
CHIT1-G102S
aa_change Gly102Ser
aa_change_short G102S
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.281
summary Associated with reduced enzyme activity, chitotriosidase deficiency.