View source for Rs1057518802

{{Rsnum
|rsid=1057518802
|StabilizedOrientation=plus
|Orientation=plus
|Chromosome=21
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=COL18A1
|position=45509554
|Gene_s=COL18A1,SLC19A1
|Assembly=GRCh38.p7
|GenomeBuild=38.3
|dbSNPBuild=150
}}{{ClinVar
|ALT=T
|CHROM=21
|CLNACC=RCV000415261.1
|CLNALLE=1
|CLNDBN=Cataract; Nystagmus; Retinal dystrophy; Severe Myopia
|CLNDSDB=Human_Phenotype_Ontology:MedGen
|CLNDSDBID=HP:0000518:C1962983; HP:0000639:C0028738; HP:0000556:CN000522; HP:0011003:C0271183
|CLNHGVS=NC_000021.8:g.46929468C>T
|CLNORIGIN=0
|CLNREVSTAT=no_criteria
|CLNSIG=4
|Disease=Cataract; Nystagmus; Retinal dystrophy; Severe Myopia
|FwdALT=T
|FwdREF=C
|GENEINFO=COL18A1:80781
|GENE_ID=80781
|GENE_NAME=COL18A1
|REF=C
|RSPOS=46929468
|Reversed=0
|SAO=1
|SSR=0
|Tags=PM;NSN;REF;ASP;LSD
|VC=SNV
|VP=0x050060000605000002100100
|WGT=1
|dbSNPBuildID=149
|rsid=1057518802
}}