{{Rsnum
|rsid=2297950
|Gene=CHIT1
|Chromosome=1
|position=203225058
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.3007
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=CHIT1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 44.2 | 44.2 | 11.5
| HCB | 54.0 | 40.1 | 5.8
| JPT | 39.8 | 51.3 | 8.8
| YRI | 51.7 | 40.1 | 8.2
| ASW | 42.1 | 49.1 | 8.8
| CHB | 54.0 | 40.1 | 5.8
| CHD | 53.2 | 39.4 | 7.3
| GIH | 55.4 | 41.6 | 3.0
| LWK | 57.8 | 33.0 | 9.2
| MEX | 53.4 | 31.0 | 15.5
| MKK | 71.4 | 27.9 | 0.6
| TSI | 48.0 | 44.1 | 7.8
| HapMapRevision=28
}}

{{Venter SNP
|rsid=2297950
|allele=T
|frequency=0.275
|uid=1103675313976
|type=heterozygous_SNP
|hugo=CHIT1
|ensembl gene=ENSG00000133063
|ensembl transcript=ENST00000362046
|sift=AFFECT FUNCTION
|disease=Very high plasma levels of CHIT1 are found in patients with Gaucher disease type 1 (GD I). This can be used as diagnostic aid and to evaluate the success of treatment. Successful therapy brings the CHIT1 activity levels back to normal.
}}

{{omim
|id=600031
|rsnum=2297950
|variant=0004
}}

{{ClinVar
|rsid=2297950
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=203225058
|CHROM=1
|GMAF=0.3004
|dbSNPBuildID=100
|SSR=0
|SAO=1
|VP=0x050360080a0515051f110100
|GENEINFO=CHIT1:1118
|GENE_NAME=CHIT1
|GENE_ID=1118
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.203225058C>T
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_001256125.1:c.257+611G>A; NM_003465.2:c.304G>A; NR_045784.1:n.400G>A; 600031.0004
|CLNSIG=5
|CLNCUI=CN069270
|CLNDBN=Chitotriosidase deficiency
|Disease=Chitotriosidase deficiency
|CLNACC=RCV000010134.1
|Tags=PM;S3D;SLO;NSM;REF;INT;ASP;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.6993; 0.3007
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C3279902:614122
|COMMON=1
}}

{{GET Evidence
|gene=CHIT1
|aa_change=Gly102Ser
|aa_change_short=G102S
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2297950
|overall_frequency_n=3023
|overall_frequency_d=10758
|overall_frequency=0.281
|n_genomes=31
|n_genomes_annotated=0
|n_haplomes=35
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.057
|genetests_testable=Y
|nblosum100=2
|autoscore=3
|webscore=N
|n_web_uneval=7
|summary_short=Associated with reduced enzyme activity, chitotriosidase deficiency.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}