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: rs727504394
rs727504394
TAZ
1.000 0.120 X 154420666 frameshift variant TG/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs727504431
rs727504431
TAZ
1.000 0.120 X 154420212 missense variant G/T snv
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.700 0
dbSNP: rs727504431
rs727504431
TAZ
1.000 0.120 X 154420212 missense variant G/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs781795144
rs781795144
TAZ
1.000 0.120 X 154419702 splice region variant C/G;T snv 5.5E-06 9.4E-06
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.700 0
dbSNP: rs878853654
rs878853654
DNASE1L1 ; TAZ
1.000 0.120 X 154412203 missense variant C/G snv
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.700 0