Variant: rs1034630858 

    present in Gene: ALMS1
    present in Chromosome: 2
    Position on Chromosome: 73453093
    Alleles of this Variant: TCAC/-

rs1034630858 in ALMS1 gene and Alstrom Syndrome PMID 11941370 2002 Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome.

PMID 17594715 2007 Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.