rs672601347, COL4A1

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.925 0.120 13 110179298 missense variant C/G;T snv 0.700 1.000 18 1984 2015
Porencephaly, Type 1, Autosomal Dominant
CUI: C4551998
Disease: Porencephaly, Type 1, Autosomal Dominant
15 0.925 0.120 13 110179298 missense variant C/G;T snv 0.700 1.000 1 2014 2014
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.925 0.120 13 110179298 missense variant C/G;T snv 0.010 1.000 1 2015 2015