Variant: rs397515337 

    present in Gene: SDCCAG8
    present in Chromosome: 1
    Position on Chromosome: 243305133
    Alleles of this Variant: C/T

rs397515337 in SDCCAG8 gene and BARDET-BIEDL SYNDROME 16 PMID 22190896 2011 Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly.

PMID 20835237 2010 Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.

rs397515337 in SDCCAG8 gene and SENIOR-LOKEN SYNDROME 7 PMID 20835237 2010 Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.

PMID 22190896 2011 Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly.