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: rs59962885
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05
CUI: C1832370
Disease: MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED 		0.800 1.000 0 2014 2014
dbSNP: rs59962885
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.710 1.000 0 2007 2007
dbSNP: rs59962885
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05
CUI: C0030590
Disease: Paroxysmal supraventricular tachycardia
Paroxysmal supraventricular tachycardia 		0.700 0
dbSNP: rs59962885
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05
CUI: C0023211
Disease: Left Bundle-Branch Block
Left Bundle-Branch Block 		0.700 0
dbSNP: rs59962885
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		0.700 0
dbSNP: rs59962885
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05
CUI: C1858154
Disease: CARDIOMYOPATHY, DILATED, 1I
CARDIOMYOPATHY, DILATED, 1I 		0.700 0
dbSNP: rs59962885
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05
CUI: C4023289
Disease: Transitional atrioventricular canal defect
Transitional atrioventricular canal defect 		0.700 0
dbSNP: rs59962885
rs59962885
DES
0.807 0.200 2 219420939 missense variant G/A;C;T snv 6.8E-05
CUI: C0024003
Disease: Lordosis
Lordosis 		0.700 0