{{Rsnum
|rsid=137852607
|Gene=CHIT1
|Chromosome=1
|position=203225706
|Orientation=plus
|GMAF=0.001377
|Gene_s=CHIT1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{omim
|id=600031
|variant=0003
|rsnum=137852607
}}{{ClinVar
|rsid=137852607
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=203225706
|CHROM=1
|GMAF=0.0014
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050260000e05040016110110
|GENEINFO=CHIT1:1118
|GENE_NAME=CHIT1
|GENE_ID=1118
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.11:g.203225706C>T
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_003465.2:c.220G>A; 600031.0003
|CLNSIG=5
|CLNCUI=CN069270
|CLNDBN=Chitotriosidase deficiency
|Disease=Chitotriosidase deficiency
|CLNACC=RCV000010133.1
|Tags=RV;PM;S3D;NSM;NSN;REF;ASP;VLD;KGPhase1;KGPROD;OTHERKG;LSD;OM;NOC
|CAF=0.9986; 0.001377
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C3279902:614122
|COMMON=0
}}