rs749895856, CPT2

N. diseases: 8
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
36 0.925 0.160 1 53211110 missense variant A/G;T snv 1.2E-05; 4.0E-05 0.700 1.000 12 1992 2005
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 0.925 0.160 1 53211110 missense variant A/G;T snv 1.2E-05; 4.0E-05 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.925 0.160 1 53211110 missense variant A/G;T snv 1.2E-05; 4.0E-05 0.700 0
Hyperextensibility at elbow
CUI: C4023808
Disease: Hyperextensibility at elbow
7 0.925 0.160 1 53211110 missense variant A/G;T snv 1.2E-05; 4.0E-05 0.700 0
Hyperextensibility of the finger joints
5 0.925 0.160 1 53211110 missense variant A/G;T snv 1.2E-05; 4.0E-05 0.700 0
Hyperextensible hand joints
CUI: C1856877
Disease: Hyperextensible hand joints
3 0.925 0.160 1 53211110 missense variant A/G;T snv 1.2E-05; 4.0E-05 0.700 0
Knee joint valgus deformity
CUI: C0576093
Disease: Knee joint valgus deformity
5 0.925 0.160 1 53211110 missense variant A/G;T snv 1.2E-05; 4.0E-05 0.700 0
Myopathic facies
CUI: C0332615
Disease: Myopathic facies
15 0.925 0.160 1 53211110 missense variant A/G;T snv 1.2E-05; 4.0E-05 0.700 0