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: rs188942711
rs188942711
COL4A3 ; MFF-DT
9 0.763 0.200 2 227253336 missense variant G/A;T snv 2.8E-05; 4.0E-06 0.020 1.000 2 2008 2012
dbSNP: rs61747728
rs61747728
NPHS2
20 0.701 0.240 1 179557079 missense variant C/T snv 3.0E-02 2.8E-02 0.020 1.000 2 2008 2012
dbSNP: rs104886142
rs104886142
COL4A5
10 0.790 0.280 X 108598793 missense variant G/A snv 8.7E-05 4.7E-05 0.010 1.000 1 2012 2012
dbSNP: rs1269093075
rs1269093075
COL4A3 ; MFF-DT
1 1.000 0.120 2 227253324 missense variant A/G snv 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1308023279
rs1308023279
COL4A3 ; MFF-DT
1 1.000 0.120 2 227280483 missense variant G/C snv 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs138545216
rs138545216
NPHS2
1 1.000 0.120 1 179557094 missense variant C/T snv 4.0E-05 1.0E-04 0.010 1.000 1 2008 2008
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
dbSNP: rs35423326
rs35423326
NPHS1 ; KIRREL2
1 1.000 0.120 19 35861122 missense variant G/A snv 2.9E-02 3.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs375290088
rs375290088
COL4A3 ; MFF-DT
2 0.925 0.120 2 227303904 missense variant G/A snv 8.0E-06 1.4E-05 0.010 1.000 1 2014 2014