Source: UNIPROT

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: rs104886100
rs104886100
COL4A5
1.000 X 108591109 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: rs104886101
rs104886101
COL4A5
0.925 0.160 X 108591118 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: rs104886102
rs104886102
COL4A5
1.000 X 108591127 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: rs104886103
rs104886103
COL4A5
0.925 0.160 X 108591135 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: rs281874663
rs281874663
COL4A5
0.925 0.160 X 108591151 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: rs104886110
rs104886110
COL4A5
0.925 0.160 X 108591160 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: rs104886114
rs104886114
COL4A5
0.925 0.160 X 108591618 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: rs104886116
rs104886116
COL4A5
0.882 0.160 X 108591635 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: rs104886117
rs104886117
COL4A5
0.925 0.160 X 108595557 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: rs104886118
rs104886118
COL4A5
0.925 0.160 X 108595566 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: rs104886120
rs104886120
COL4A5
1.000 X 108595574 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: rs104886121
rs104886121
COL4A5
0.925 0.160 X 108597042 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: rs104886119
rs104886119
COL4A5
1.000 X 108597052 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: rs104886126
rs104886126
COL4A5
0.925 0.160 X 108597422 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: rs104886127
rs104886127
COL4A5
0.925 0.160 X 108597423 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: rs104886129
rs104886129
COL4A5
0.925 0.160 X 108597461 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: rs104886136
rs104886136
COL4A5
0.925 0.160 X 108597470 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: rs104886137
rs104886137
COL4A5
0.925 0.160 X 108597489 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: rs104886138
rs104886138
COL4A5
0.925 0.160 X 108597507 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: rs104886139
rs104886139
COL4A5
0.925 0.160 X 108597524 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: rs104886130
rs104886130
COL4A5
0.925 0.160 X 108597525 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: rs104886133
rs104886133
COL4A5
0.925 0.160 X 108598730 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: rs104886135
rs104886135
COL4A5
0.925 0.160 X 108598747 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: rs104886140
rs104886140
COL4A5
0.925 0.160 X 108598748 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: rs104886141
rs104886141
COL4A5
0.925 0.160 X 108598783 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