Gene: COL4A3 ×
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: rs121912826
rs121912826
COL4A3 ; MFF-DT
1 1.000 0.120 2 227290062 missense variant G/A snv 0.800 1.000 1 2002 2002
dbSNP: rs121912827
rs121912827
COL4A3 ; MFF-DT
2 0.925 0.120 2 227289222 missense variant G/A;T snv 2.0E-05 0.800 1.000 1 2002 2002
dbSNP: rs1363680371
rs1363680371
COL4A3 ; MFF-DT
3 0.882 0.120 2 227254659 frameshift variant -/T delins 0.700 1.000 1 1997 1997
dbSNP: rs1060499654
rs1060499654
COL4A3 ; MFF-DT
3 0.882 0.120 2 227280587 stop gained C/T snv 7.0E-06 0.700 0
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 0
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 0
dbSNP: rs757341933
rs757341933
COL4A3 ; MFF-DT
3 0.882 0.120 2 227266473 missense variant G/A;C snv 2.4E-05 0.700 0
dbSNP: rs869025326
rs869025326
COL4A3 ; MFF-DT
1 1.000 0.120 2 227253640 splice donor variant T/C snv 0.700 0
dbSNP: rs869025327
rs869025327
COL4A3 ; MFF-DT
1 1.000 0.120 2 227294562 missense variant G/A snv 0.700 0
dbSNP: rs869025328
rs869025328
COL4A3 ; MFF-DT
1 1.000 0.120 2 227253638 splice region variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs769744951
rs769744951
COL4A3 ; MFF-DT
1 1.000 0.120 2 227267055 synonymous variant T/C snv 8.0E-06 0.010 1.000 1 2018 2018