rs369160589, ALG1

N. diseases: 35
Source: CURATED ×
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.
Recurrent urinary tract infection
CUI: C0262655
Disease: Recurrent urinary tract infection
8 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
120 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
417 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Seizures, Focal
CUI: C0751495
Disease: Seizures, Focal
9 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Small for gestational age (disorder)
CUI: C0235991
Disease: Small for gestational age (disorder)
34 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Tachycardia
CUI: C0039231
Disease: Tachycardia
8 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Tapering fingers (finding)
CUI: C0426886
Disease: Tapering fingers (finding)
19 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Temperature instability
CUI: C1820737
Disease: Temperature instability
8 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Tonic - clonic seizures
CUI: C0494475
Disease: Tonic - clonic seizures
21 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0