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: rs140614802
rs140614802
ADSS1 ; LOC107984670
0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05
CUI: C4310754
Disease: MYOPATHY, DISTAL, 5
MYOPATHY, DISTAL, 5 		0.800 0
dbSNP: rs140614802
rs140614802
ADSS1 ; LOC107984670
0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05
CUI: C4692845
Disease: BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO
BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs140614802
rs140614802
ADSS1 ; LOC107984670
0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05
CUI: C1858719
Disease: Facial muscle weakness of muscles innervated by CN VII
Facial muscle weakness of muscles innervated by CN VII 		0.700 0
dbSNP: rs140614802
rs140614802
ADSS1 ; LOC107984670
0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.700 0
dbSNP: rs140614802
rs140614802
ADSS1 ; LOC107984670
0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05
CUI: C0162154
Disease: Atrophic scar
Atrophic scar 		0.700 0
dbSNP: rs140614802
rs140614802
ADSS1 ; LOC107984670
0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05
CUI: C0022575
Disease: Keratoconjunctivitis Sicca
Keratoconjunctivitis Sicca 		0.700 0
dbSNP: rs140614802
rs140614802
ADSS1 ; LOC107984670
0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs140614802
rs140614802
ADSS1 ; LOC107984670
0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		0.700 0
dbSNP: rs140614802
rs140614802
ADSS1 ; LOC107984670
0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.700 0
dbSNP: rs140614802
rs140614802
ADSS1 ; LOC107984670
0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		0.700 0