COL4A5, collagen type IV alpha 5 chain, 1287

N. diseases: 124; N. variants: 645
Disease: ALPORT SYNDROME 1, X-LINKED ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
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 22 1991 2014
dbSNP: rs104886134
rs104886134 		0.925 0.160 X 108598835 missense variant G/A;C;T snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.800 1.000 22 1991 2014
dbSNP: rs104886140
rs104886140 		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 22 1991 2014
dbSNP: rs104886228
rs104886228 		1.000 X 108665560 missense variant G/A;T snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.800 1.000 22 1991 2014
dbSNP: rs104886255
rs104886255 		0.925 0.160 X 108668435 missense variant G/C;T snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.800 1.000 22 1991 2014
dbSNP: rs104886282
rs104886282 		1.000 X 108687641 missense variant G/A;C;T snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.800 1.000 22 1991 2014
dbSNP: rs104886297
rs104886297 		0.925 0.160 X 108694905 missense variant G/A;T snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.800 1.000 22 1991 2016
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: 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: 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: 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: rs104886121
rs104886121 		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: rs104886142
rs104886142 		0.790 0.280 X 108598793 missense variant G/A snv 8.7E-05 4.7E-05
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.800 1.000 21 1991 2014
dbSNP: rs104886163
rs104886163 		0.925 0.160 X 108602982 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: rs104886189
rs104886189 		1.000 X 108620354 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: rs104886225
rs104886225 		0.925 0.160 X 108655403 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: rs104886229
rs104886229 		0.925 0.160 X 108665561 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: rs104886237
rs104886237 		1.000 X 108666549 missense variant G/A snv 5.7E-06
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.800 1.000 21 1991 2014
dbSNP: rs104886287
rs104886287 		1.000 X 108694809 missense variant G/A;C snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.800 1.000 21 1991 2014
dbSNP: rs104886293
rs104886293 		1.000 X 108692850 stop gained G/A;C snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.800 1.000 21 1991 2014
dbSNP: rs104886303
rs104886303 		0.851 0.200 X 108695409 missense variant T/G snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.800 1.000 21 1991 2014
dbSNP: rs104886308
rs104886308 		0.851 0.160 X 108696350 missense variant G/A;C;T snv 2.2E-05
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.800 1.000 21 1991 2014
dbSNP: rs281874663
rs281874663 		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: rs281874743
rs281874743 		1.000 X 108692925 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