Variant: rs1553820518 

    present in Gene: SHISA5;ATRIP;TREX1;ATRIP-TREX1
    present in Chromosome: 3
    Position on Chromosome: 48467484
    Alleles of this Variant: A/T

rs1553820518 in SHISA5;ATRIP;TREX1;ATRIP-TREX1 gene and AICARDI-GOUTIERES SYNDROME 1 PMID 17660820 2007 C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.

PMID 26691497 2016 A 44-year-old man with eye, kidney, and brain dysfunction.

rs1553820518 in SHISA5;ATRIP;TREX1;ATRIP-TREX1 gene and Chilblain lupus 1 PMID 17660820 2007 C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.

PMID 26691497 2016 A 44-year-old man with eye, kidney, and brain dysfunction.

rs1553820518 in SHISA5;ATRIP;TREX1;ATRIP-TREX1 gene and Vasculopathy, Retinal, With Cerebral Leukodystrophy PMID 17660820 2007 C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.

PMID 26691497 2016 A 44-year-old man with eye, kidney, and brain dysfunction.