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: rs749895856
rs749895856
CPT2
0.925 0.160 1 53211110 missense variant A/G;T snv 1.2E-05; 4.0E-05
CUI: C1856877
Disease: Hyperextensible hand joints
Hyperextensible hand joints 		0.700 0
dbSNP: rs749895856
rs749895856
CPT2
0.925 0.160 1 53211110 missense variant A/G;T snv 1.2E-05; 4.0E-05
CUI: C1844577
Disease: Hyperextensibility of the finger joints
Hyperextensibility of the finger joints 		0.700 0
dbSNP: rs749895856
rs749895856
CPT2
0.925 0.160 1 53211110 missense variant A/G;T snv 1.2E-05; 4.0E-05
CUI: C0332615
Disease: Myopathic facies
Myopathic facies 		0.700 0
dbSNP: rs749895856
rs749895856
CPT2
0.925 0.160 1 53211110 missense variant A/G;T snv 1.2E-05; 4.0E-05
CUI: C4023808
Disease: Hyperextensibility at elbow
Hyperextensibility at elbow 		0.700 0
dbSNP: rs749895856
rs749895856
CPT2
0.925 0.160 1 53211110 missense variant A/G;T snv 1.2E-05; 4.0E-05
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.700 0
dbSNP: rs749895856
rs749895856
CPT2
0.925 0.160 1 53211110 missense variant A/G;T snv 1.2E-05; 4.0E-05
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		0.700 0
dbSNP: rs749895856
rs749895856
CPT2
0.925 0.160 1 53211110 missense variant A/G;T snv 1.2E-05; 4.0E-05
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0