rs1057518887, SEPSECS

N. diseases: 7
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.
Arthrogryposis
CUI: C0003886
Disease: Arthrogryposis
33 0.925 0.160 4 25156851 splice region variant C/T snv 0.700 0
Cerebellar Hypoplasia
CUI: C0266470
Disease: Cerebellar Hypoplasia
26 0.925 0.160 4 25156851 splice region variant C/T snv 0.700 0
Cerebral hypoplasia
CUI: C1855330
Disease: Cerebral hypoplasia
4 0.925 0.160 4 25156851 splice region variant C/T snv 0.700 0
Kyphosis deformity of spine
CUI: C0022821
Disease: Kyphosis deformity of spine
10 0.925 0.160 4 25156851 splice region variant C/T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.160 4 25156851 splice region variant C/T snv 0.700 0
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 0.925 0.160 4 25156851 splice region variant C/T snv 0.700 0
Spinal rigidity
CUI: C1858025
Disease: Spinal rigidity
3 0.925 0.160 4 25156851 splice region variant C/T snv 0.700 0