rs146539065, SEPSECS

N. diseases: 34
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.
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D
CUI: C3151140
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D
9 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 0.700 0
Poor head control
CUI: C1836038
Disease: Poor head control
13 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 0.700 0
Reduced visual acuity
CUI: C0234632
Disease: Reduced visual acuity
10 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 0.700 0
Retinal depigmentation
CUI: C0151891
Disease: Retinal depigmentation
5 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 0.700 0
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 0.700 0
Severe muscular hypotonia
CUI: C1839630
Disease: Severe muscular hypotonia
9 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 0.700 0
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
74 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 0.700 0
Stridor
CUI: C0038450
Disease: Stridor
7 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 0.700 0