rs1057517686, ATAD3A

N. diseases: 7
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.
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.120 1 1529299 missense variant C/T snv 0.710 1.000 1 2016 2016
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.827 0.120 1 1529299 missense variant C/T snv 0.700 1.000 1 2016 2016
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
51 0.827 0.120 1 1529299 missense variant C/T snv 0.700 1.000 1 2016 2016
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
81 0.827 0.120 1 1529299 missense variant C/T snv 0.700 1.000 1 2016 2016
HAREL-YOON SYNDROME
CUI: C4310677
Disease: HAREL-YOON SYNDROME
3 0.827 0.120 1 1529299 missense variant C/T snv 0.700 0
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.827 0.120 1 1529299 missense variant C/T snv 0.010 1.000 1 2016 2016
Hypertrophic obstructive cardiomyopathy
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
90 0.827 0.120 1 1529299 missense variant C/T snv 0.010 1.000 1 2016 2016