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: rs104886043
rs104886043
1.000 X 108559083 missense variant G/A snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.800 1.000 21 1991 2014
dbSNP: rs281874723
rs281874723
0.925 0.160 X 108571414 missense variant G/A;T snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.700 1.000 21 1991 2014
dbSNP: rs104886055
rs104886055
0.925 0.160 X 108573628 missense variant G/C snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.700 1.000 21 1991 2014
dbSNP: rs104886056
rs104886056
0.925 0.160 X 108573637 missense variant G/C;T snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.700 1.000 21 1991 2014
dbSNP: rs104886060
rs104886060
0.925 0.160 X 108575937 missense variant G/A;T snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.700 1.000 21 1991 2014
dbSNP: rs104886063
rs104886063
0.925 0.160 X 108577953 missense variant G/A;T snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.800 1.000 21 1991 2014
dbSNP: rs104886067
rs104886067
0.925 0.160 X 108578078 missense variant G/A snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.700 1.000 21 1991 2014
dbSNP: rs104886075
rs104886075
0.925 0.160 X 108578087 missense variant G/A snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.700 1.000 21 1991 2014
dbSNP: rs104886076
rs104886076
0.925 0.160 X 108578291 missense variant G/C snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.700 1.000 21 1991 2014
dbSNP: rs104886068
rs104886068
0.925 0.160 X 108578319 missense variant G/A snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.700 1.000 21 1991 2014
dbSNP: rs104886069
rs104886069
1.000 X 108580542 missense variant G/C snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.700 1.000 21 1991 2014
dbSNP: rs104886450
rs104886450
0.925 0.160 X 108580713 missense variant G/T snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.700 1.000 21 1991 2014
dbSNP: rs104886073
rs104886073
1.000 X 108580721 missense variant G/C snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.700 1.000 21 1991 2014
dbSNP: rs104886078
rs104886078
0.925 0.160 X 108580722 missense variant G/T snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.700 1.000 21 1991 2014
dbSNP: rs104886079
rs104886079
1.000 X 108580731 missense variant G/A snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.800 1.000 21 1991 2014
dbSNP: rs104886080
rs104886080
0.925 0.160 X 108580983 missense variant G/A snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.700 1.000 21 1991 2014
dbSNP: rs104886085
rs104886085
0.925 0.160 X 108582902 missense variant G/C snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.700 1.000 21 1991 2014
dbSNP: rs104886088
rs104886088
0.882 0.160 X 108582920 stop gained G/A;T snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.800 1.000 21 1991 2014
dbSNP: rs104886091
rs104886091
0.925 0.160 X 108582921 missense variant G/A snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.800 1.000 21 1991 2014
dbSNP: rs104886092
rs104886092
0.925 0.160 X 108584485 missense variant G/T snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.700 1.000 21 1991 2014
dbSNP: rs104886096
rs104886096
0.925 0.160 X 108586676 missense variant G/A snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.800 1.000 21 1991 2014
dbSNP: rs104886097
rs104886097
0.925 0.160 X 108586694 missense variant G/A snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.700 1.000 21 1991 2014
dbSNP: rs104886108
rs104886108
0.925 0.160 X 108586703 missense variant G/C snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.700 1.000 21 1991 2014
dbSNP: rs104886105
rs104886105
0.925 0.160 X 108586730 missense variant G/A snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.700 1.000 21 1991 2014
dbSNP: rs104886107
rs104886107
1.000 X 108591091 missense variant G/A snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.700 1.000 21 1991 2014