Variant: rs797045034

present in Gene: COL4A1 present in Chromosome: 13 Position on Chromosome: 110177896 Alleles of this Variant: C/T

rs797045034 in COL4A1 gene and BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

rs797045034 in COL4A1 gene and PORENCEPHALY, FAMILIAL PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.