Source: CLINVAR

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: rs121912858
rs121912858
COL4A4
1.000 2 227032253 missense variant C/T snv
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.800 1.000 0 1994 2012
dbSNP: rs121912860
rs121912860
COL4A4
0.925 0.120 2 227055971 missense variant C/T snv 7.0E-06
CUI: C0241908
Disease: Hematuria, Benign Familial
Hematuria, Benign Familial 		0.800 1.000 0 1996 2003
dbSNP: rs769783985
rs769783985
COL4A4
0.925 0.120 2 227052395 missense variant C/G;T snv 1.2E-05 2.1E-05
CUI: C0241908
Disease: Hematuria, Benign Familial
Hematuria, Benign Familial 		0.800 1.000 0 1996 2003
dbSNP: rs772699709
rs772699709
COL4A4
1.000 2 227051038 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.800 1.000 0 1994 2012
dbSNP: rs876657397
rs876657397
COL4A3 ; COL4A4
1.000 2 227164756 inframe deletion CTGCCGCTCCTGCTGGTGCTCCTG/- delins 2.8E-05
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 4 2012 2017
dbSNP: rs569681869
rs569681869
COL4A4
0.925 0.040 2 227059468 missense variant C/G snv 7.2E-05 3.5E-05
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 3 2007 2016
dbSNP: rs773081522
rs773081522
COL4A4
1.000 2 227094154 inframe deletion CTCCAGGCAAGCCAGGTG/- delins 4.0E-05 7.0E-06
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 3 1998 2016
dbSNP: rs121912860
rs121912860
COL4A4
0.925 0.120 2 227055971 missense variant C/T snv 7.0E-06
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 2 2003 2016
dbSNP: rs121912861
rs121912861
COL4A4
0.882 0.160 2 227022135 stop gained G/A snv 8.0E-06
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 2 1998 2015
dbSNP: rs1553644402
rs1553644402
COL4A4
1.000 2 227060216 missense variant C/T snv
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 2 2014 2016
dbSNP: rs201648982
rs201648982
COL4A4
1.000 2 227057474 missense variant C/G snv 8.2E-06 7.0E-06
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 2 2014 2016
dbSNP: rs35138315
rs35138315
COL4A4
0.882 0.200 2 227052367 stop gained G/C snv 6.8E-05 1.1E-04
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 2 2002 2013
dbSNP: rs926605269
rs926605269
COL4A4
1.000 2 227089922 stop gained C/A;G;T snv
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 2 2005 2015
dbSNP: rs937550597
rs937550597
COL4A4
1.000 2 227056071 missense variant C/T snv 2.1E-05
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 2 2006 2013
dbSNP: rs1446915781
rs1446915781
COL4A4
1.000 2 227080531 missense variant C/G snv 4.0E-06
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2017 2017
dbSNP: rs1489351299
rs1489351299
COL4A4
1.000 2 227030449 stop gained G/A snv
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2014 2014
dbSNP: rs1553643669
rs1553643669
COL4A4
1.000 2 227059508 frameshift variant -/C delins
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2006 2006
dbSNP: rs1553658892
rs1553658892
COL4A4
1.000 2 227077929 inframe deletion GGAACTCCTGGGTGGCCT/- delins
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2003 2003
dbSNP: rs1553669704
rs1553669704
COL4A4
1.000 2 227088678 missense variant C/T snv
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2013 2013
dbSNP: rs1553712110
rs1553712110
COL4A4
1.000 2 227144515 splice donor variant C/G snv
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2014 2014
dbSNP: rs1553725815
rs1553725815
COL4A3 ; COL4A4
1.000 2 227164728 start lost T/C snv
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2013 2013
dbSNP: rs369922627
rs369922627
COL4A4
0.925 2 227008228 stop gained A/C;G snv 1.6E-05 7.0E-06
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2014 2014
dbSNP: rs749299357
rs749299357
COL4A4
1.000 2 227043167 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2014 2014
dbSNP: rs755649235
rs755649235
COL4A4
1.000 2 227098780 missense variant C/T snv 8.1E-06 1.4E-05
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2014 2014
dbSNP: rs762139460
rs762139460
COL4A4
1.000 2 227059546 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2017 2017