Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912861
rs121912861
COL4A4
4 0.882 0.160 2 227022135 stop gained G/A snv 8.0E-06 0.020 1.000 2 2001 2003
dbSNP: rs35138315
rs35138315
COL4A4
3 0.882 0.200 2 227052367 stop gained G/C snv 6.8E-05 1.1E-04 0.010 1.000 1 2003 2003