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: rs267606915
rs267606915
NOTCH3
1.000 19 15189085 missense variant A/T snv
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 1.000 22 1997 2014
dbSNP: rs28933697
rs28933697
NOTCH3
1.000 19 15192095 missense variant G/A snv 1.4E-05
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 1.000 22 1997 2014
dbSNP: rs28937321
rs28937321
NOTCH3
1.000 19 15192504 missense variant C/A snv
CUI: C4551768
Disease: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1 		0.800 1.000 22 1997 2014
dbSNP: rs104886043
rs104886043
COL4A5
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: rs104886069
rs104886069
COL4A5
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: rs104886073
rs104886073
COL4A5
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: rs104886079
rs104886079
COL4A5
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: 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: 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: rs104886107
rs104886107
COL4A5
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
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: 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: rs104886146
rs104886146
COL4A5
1.000 X 108598819 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: rs104886160
rs104886160
COL4A5
1.000 X 108601894 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: rs104886180
rs104886180
COL4A5
1.000 X 108614938 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: rs104886184
rs104886184
COL4A5
1.000 X 108614979 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: rs104886188
rs104886188
COL4A5
1.000 X 108620346 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: rs104886189
rs104886189
COL4A5
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: rs104886192
rs104886192
COL4A5
1.000 X 108621817 missense variant A/G snv 3.0E-04 2.0E-04
CUI: C4746986
Disease: ALPORT SYNDROME 1, X-LINKED
ALPORT SYNDROME 1, X-LINKED 		0.700 1.000 21 1991 2014
dbSNP: rs104886196
rs104886196
COL4A5
1.000 X 108622729 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: rs104886202
rs104886202
COL4A5
1.000 X 108625705 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: rs104886210
rs104886210
COL4A5
1.000 X 108625776 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: rs104886236
rs104886236
COL4A5
1.000 X 108666540 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: rs104886237
rs104886237
COL4A5
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: rs104886253
rs104886253
COL4A5
1.000 X 108668400 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