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: rs200672668
rs200672668
COL4A3 ; MFF-DT
1 1.000 2 227273108 missense variant G/A snv 1.6E-05 1.4E-05 0.800 1.000 4 2000 2013
dbSNP: rs375040636
rs375040636
COL4A3 ; MFF-DT
1 1.000 2 227279882 missense variant G/A snv 0.800 1.000 4 2000 2012
dbSNP: rs121912858
rs121912858
COL4A4
1 1.000 2 227032253 missense variant C/T snv 0.800 1.000 3 1994 2012
dbSNP: rs772699709
rs772699709
COL4A4
1 1.000 2 227051038 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.800 1.000 3 1994 2012
dbSNP: rs201697532
rs201697532
COL4A3 ; MFF-DT
1 1.000 2 227311838 missense variant C/T snv 3.6E-04 3.8E-04 0.800 1.000 2 2000 2001
dbSNP: rs1553760257
rs1553760257
COL4A3 ; MFF-DT
1 1.000 2 227282497 frameshift variant GA/T delins 0.700 1.000 5 2001 2017
dbSNP: rs267606745
rs267606745
COL4A3 ; MFF-DT
2 0.925 2 227295044 missense variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 4 2001 2017
dbSNP: rs876657397
rs876657397
COL4A3 ; COL4A4
1 1.000 2 227164756 inframe deletion CTGCCGCTCCTGCTGGTGCTCCTG/- delins 2.8E-05 0.700 1.000 4 2012 2017
dbSNP: rs569681869
rs569681869
COL4A4
6 0.925 0.040 2 227059468 missense variant C/G snv 7.2E-05 3.5E-05 0.700 1.000 3 2007 2016
dbSNP: rs769863513
rs769863513
COL4A3 ; MFF-DT
1 1.000 2 227308922 stop gained C/T snv 1.2E-05 1.4E-05 0.700 1.000 3 2005 2015
dbSNP: rs773081522
rs773081522
COL4A4
1 1.000 2 227094154 inframe deletion CTCCAGGCAAGCCAGGTG/- delins 4.0E-05 7.0E-06 0.700 1.000 3 1998 2016
dbSNP: rs1060499654
rs1060499654
COL4A3 ; MFF-DT
3 0.882 0.120 2 227280587 stop gained C/T snv 7.0E-06 0.700 1.000 2 2012 2015
dbSNP: rs121912824
rs121912824
COL4A3 ; MFF-DT
3 0.882 0.120 2 227307898 stop gained C/T snv 4.0E-06 2.8E-05 0.700 1.000 2 1994 2003
dbSNP: rs121912825
rs121912825
COL4A3 ; MFF-DT
1 1.000 2 227309007 stop gained C/G;T snv 4.0E-06 0.700 1.000 2 1994 2015
dbSNP: rs121912860
rs121912860
COL4A4
2 0.925 0.120 2 227055971 missense variant C/T snv 7.0E-06 0.700 1.000 2 2003 2016
dbSNP: rs121912861
rs121912861
COL4A4
4 0.882 0.160 2 227022135 stop gained G/A snv 8.0E-06 0.700 1.000 2 1998 2015
dbSNP: rs121912863
rs121912863
COL4A4
2 1.000 2 227008112 missense variant G/A snv 1.6E-04 1.8E-04 0.700 1.000 2 1994 1998
dbSNP: rs1346138010
rs1346138010
COL4A3 ; MFF-DT
3 0.882 0.120 2 227246688 stop gained G/T snv 8.0E-06 2.1E-05 0.700 1.000 2 2001 2013
dbSNP: rs1445615417
rs1445615417
COL4A3 ; MFF-DT
1 1.000 2 227307868 frameshift variant CTTTT/- delins 1.4E-05 0.700 1.000 2 1994 1994
dbSNP: rs1553644402
rs1553644402
COL4A4
1 1.000 2 227060216 missense variant C/T snv 0.700 1.000 2 2014 2016
dbSNP: rs1553755124
rs1553755124
COL4A3 ; MFF-DT
1 1.000 2 227263944 missense variant G/A snv 0.700 1.000 2 2000 2015
dbSNP: rs1553758919
rs1553758919
COL4A3 ; MFF-DT
1 1.000 2 227277493 missense variant G/A snv 0.700 1.000 2 2014 2015
dbSNP: rs1559913871
rs1559913871
COL4A3 ; MFF-DT
1 1.000 2 227297790 missense variant G/C snv 0.700 1.000 2 2013 2016
dbSNP: rs201648982
rs201648982
COL4A4
1 1.000 2 227057474 missense variant C/G snv 8.2E-06 7.0E-06 0.700 1.000 2 2014 2016
dbSNP: rs35138315
rs35138315
COL4A4
3 0.882 0.200 2 227052367 stop gained G/C snv 6.8E-05 1.1E-04 0.700 1.000 2 2002 2013