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: rs386134243
rs386134243
0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1.000 11 2012 2017
dbSNP: rs386134243
rs386134243
0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06
Hereditary Motor and Sensory-Neuropathy Type II
0.700 1.000 4 2012 2017
dbSNP: rs386134243
rs386134243
0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06
Arrhythmogenic Right Ventricular Dysplasia
0.700 0
dbSNP: rs386134243
rs386134243
0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
0.700 0
dbSNP: rs386134243
rs386134243
0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06
Charcot-Marie-Tooth disease, Type 2B1
0.700 0
dbSNP: rs386134243
rs386134243
0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06
CUI: C1857829
Disease: Heart-hand syndrome, Slovenian type
Heart-hand syndrome, Slovenian type
0.700 0
dbSNP: rs386134243
rs386134243
0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction
0.700 0
dbSNP: rs386134243
rs386134243
0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.700 0
dbSNP: rs386134243
rs386134243
0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06
Familial Partial Lipodystrophy, Type 2
0.700 0
dbSNP: rs386134243
rs386134243
0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06
Lethal tight skin contracture syndrome (disorder)
0.700 0
dbSNP: rs386134243
rs386134243
0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.700 0
dbSNP: rs386134243
rs386134243
0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
0.700 0
dbSNP: rs386134243
rs386134243
0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06
CUI: C0033300
Disease: Progeria
Progeria
0.700 0
dbSNP: rs386134243
rs386134243
0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06
CUI: C2750035
Disease: Emery-Dreifuss Muscular Dystrophy 3
Emery-Dreifuss Muscular Dystrophy 3
0.700 0
dbSNP: rs386134243
rs386134243
0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome
0.700 0
dbSNP: rs386134243
rs386134243
0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06
MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder)
0.700 0