COL4A3, collagen type IV alpha 3 chain, 1285

N. diseases: 119; N. variants: 129
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE ×
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: rs200672668
rs200672668 		1.000 2 227273108 missense variant G/A snv 1.6E-05 1.4E-05
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.800 1.000 4 2000 2013
dbSNP: rs375040636
rs375040636 		1.000 2 227279882 missense variant G/A snv
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.800 1.000 4 2000 2012
dbSNP: rs201697532
rs201697532 		1.000 2 227311838 missense variant C/T snv 3.6E-04 3.8E-04
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.800 1.000 2 2000 2001
dbSNP: rs1553760257
rs1553760257 		1.000 2 227282497 frameshift variant GA/T delins
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 5 2001 2017
dbSNP: rs267606745
rs267606745 		0.925 2 227295044 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 4 2001 2017
dbSNP: rs876657397
rs876657397 		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: rs769863513
rs769863513 		1.000 2 227308922 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 3 2005 2015
dbSNP: rs1060499654
rs1060499654 		0.882 0.120 2 227280587 stop gained C/T snv 7.0E-06
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 2 2012 2015
dbSNP: rs121912824
rs121912824 		0.882 0.120 2 227307898 stop gained C/T snv 4.0E-06 2.8E-05
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 2 1994 2003
dbSNP: rs121912825
rs121912825 		1.000 2 227309007 stop gained C/G;T snv 4.0E-06
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 2 1994 2015
dbSNP: rs1346138010
rs1346138010 		0.882 0.120 2 227246688 stop gained G/T snv 8.0E-06 2.1E-05
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 2 2001 2013
dbSNP: rs1445615417
rs1445615417 		1.000 2 227307868 frameshift variant CTTTT/- delins 1.4E-05
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 2 1994 1994
dbSNP: rs1553755124
rs1553755124 		1.000 2 227263944 missense variant G/A snv
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 2 2000 2015
dbSNP: rs1553758919
rs1553758919 		1.000 2 227277493 missense variant G/A snv
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 2 2014 2015
dbSNP: rs1559913871
rs1559913871 		1.000 2 227297790 missense variant G/C snv
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 2 2013 2016
dbSNP: rs371405814
rs371405814 		1.000 2 227270789 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 2 2000 2001
dbSNP: rs748026887
rs748026887 		1.000 2 227307801 frameshift variant CCGACAC/- delins 2.0E-05
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 2 1995 2013
dbSNP: rs759873621
rs759873621 		1.000 2 227308982 stop gained C/T snv 4.0E-06
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 2 2005 2008
dbSNP: rs763726708
rs763726708 		1.000 2 227282433 stop gained G/A;T snv 4.0E-06; 4.0E-06
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 2 2000 2001
dbSNP: rs766208466
rs766208466 		1.000 2 227310803 missense variant G/A;T snv 4.8E-05
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 2 2013 2016
dbSNP: rs766306957
rs766306957 		1.000 2 227284230 frameshift variant TAAAGGGCCAG/- delins 2.1E-05
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 2 2013 2014
dbSNP: rs766900945
rs766900945 		0.925 2 227290785 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 2 2002 2014
dbSNP: rs772958162
rs772958162 		1.000 2 227266455 stop gained G/A;T snv 4.0E-06
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 2 2014 2014
dbSNP: rs778034451
rs778034451 		1.000 2 227273117 missense variant G/A snv 8.1E-06 7.0E-06
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 2 2013 2016
dbSNP: rs868002181
rs868002181 		1.000 2 227280970 stop gained G/A;T snv 1.1E-05
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		0.700 1.000 2 2013 2016