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: rs104886311
rs104886311
0.925 0.160 X 108696354 missense variant T/G snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.700 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: 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: 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 21 1991 2016
dbSNP: rs104886288
rs104886288
0.925 0.160 X 108694817 missense variant T/C snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.700 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: 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
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: rs201220208
rs201220208
1.000 X 108692786 missense variant C/A;G snv 1.6E-04
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.700 1.000 21 1991 2014
dbSNP: rs104886285
rs104886285
1.000 X 108692769 missense variant G/A snv 1.6E-05
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.700 1.000 21 1991 2014
dbSNP: rs104886284
rs104886284
1.000 X 108687677 missense variant C/A snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.700 1.000 21 1991 2014
dbSNP: rs104886283
rs104886283
0.925 0.160 X 108687647 missense variant C/T snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.700 1.000 21 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 21 1991 2014
dbSNP: rs104886280
rs104886280
0.925 0.160 X 108687535 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: rs104886277
rs104886277
0.925 0.160 X 108687509 missense variant G/A;C snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.700 1.000 21 1991 2014
dbSNP: rs104886274
rs104886274
0.925 0.160 X 108686112 missense variant G/A;C;T snv
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.700 1.000 21 1991 2014
dbSNP: rs144282156
rs144282156
1.000 X 108686096 missense variant C/A;T snv 5.5E-06; 3.5E-04
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.700 1.000 20 1991 2014
dbSNP: rs104886272
rs104886272
1.000 X 108686093 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: rs104886270
rs104886270
1.000 X 108686060 missense variant C/T snv 3.8E-05 7.6E-05
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED
0.700 1.000 21 1991 2014
dbSNP: rs104886269
rs104886269
0.925 0.160 X 108681826 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: rs104886267
rs104886267
0.925 0.160 X 108680956 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: rs104886266
rs104886266
0.925 0.160 X 108680751 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: rs104886257
rs104886257
1.000 X 108677517 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: rs104886264
rs104886264
0.925 0.160 X 108668496 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: rs104886262
rs104886262
1.000 X 108668468 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