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: rs1555303073
rs1555303073
COL4A1
0.851 0.120 13 110176912 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0