Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1556411578
rs1556411578
COL4A5
X 108595507 coding sequence variant AAGGTGACA/- delins
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs1556411578
rs1556411578
COL4A5
X 108595507 coding sequence variant AAGGTGACA/- delins
CUI: C1408258
Disease: Kidney damage
Kidney damage 		0.700 0
dbSNP: rs1556411578
rs1556411578
COL4A5
X 108595507 coding sequence variant AAGGTGACA/- delins
CUI: C0018965
Disease: Hematuria
Hematuria 		0.700 0
dbSNP: rs1556411578
rs1556411578
COL4A5
X 108595507 coding sequence variant AAGGTGACA/- delins
CUI: C0033687
Disease: Proteinuria
Proteinuria 		0.700 0