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: rs781565158
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05
CUI: C4310645
Disease: MYOPATHY, MYOFIBRILLAR, 8
MYOPATHY, MYOFIBRILLAR, 8 		0.800 1.000 0 2016 2016
dbSNP: rs781565158
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05
CUI: C0560346
Disease: Difficulty running
Difficulty running 		0.700 0
dbSNP: rs781565158
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs781565158
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05
CUI: C0234182
Disease: Gowers sign
Gowers sign 		0.700 0
dbSNP: rs781565158
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05
CUI: C1858091
Disease: Long fingers
Long fingers 		0.700 0
dbSNP: rs781565158
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05
CUI: C0037763
Disease: Spasm
Spasm 		0.700 0
dbSNP: rs781565158
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy 		0.700 0
dbSNP: rs781565158
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		0.700 0
dbSNP: rs781565158
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05
CUI: C0231712
Disease: Waddling gait
Waddling gait 		0.700 0
dbSNP: rs781565158
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05
CUI: C0577655
Disease: Quadriceps weakness
Quadriceps weakness 		0.700 0
dbSNP: rs781565158
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05
CUI: C4551520
Disease: Intention tremor
Intention tremor 		0.700 0
dbSNP: rs781565158
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.700 0
dbSNP: rs781565158
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		0.700 0
dbSNP: rs781565158
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.700 0
dbSNP: rs781565158
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.700 0
dbSNP: rs781565158
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05
CUI: C0231528
Disease: Myalgia
Myalgia 		0.700 0
dbSNP: rs781565158
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05
CUI: C0018808
Disease: Heart murmur
Heart murmur 		0.700 0
dbSNP: rs781565158
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs781565158
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05
CUI: C1860121
Disease: Decreased testosterone in males
Decreased testosterone in males 		0.700 0
dbSNP: rs781565158
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		0.700 0
dbSNP: rs781565158
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05
CUI: C0030193
Disease: Pain
Pain 		0.700 0