rs1010184002, PEX6

N. diseases: 60
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.
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Short palm
CUI: C1843108
Disease: Short palm
13 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Short philtrum
CUI: C1861324
Disease: Short philtrum
25 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Slender build
CUI: C1850573
Disease: Slender build
2 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Small hand
CUI: C0575802
Disease: Small hand
31 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Thoracic scoliosis
CUI: C1857790
Disease: Thoracic scoliosis
5 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Thoracolumbar scoliosis
CUI: C0749379
Disease: Thoracolumbar scoliosis
17 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
Weight less than 3rd percentile
CUI: C1844806
Disease: Weight less than 3rd percentile
27 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
PEROXISOME BIOGENESIS DISORDER 4B
CUI: C3553937
Disease: PEROXISOME BIOGENESIS DISORDER 4B
35 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 1.000 1 2015 2015