Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 171637 single nucleotide variant NM_031485.3(GRWD1):c.593G>A (p.Arg198Gln) 147327994 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 19 48450437 48450437 G A 171637 single nucleotide variant NM_031485.3(GRWD1):c.593G>A (p.Arg198Gln) 147327994 MedGen:C0376358,OMIM:176807,SNOMED CT:C0376358 19 48953694 48953694 G A

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000105447.12 GRWD1 610597