rs1131692232, PUF60

N. diseases: 6
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.
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.851 0.160 8 143818426 inframe deletion GGGCAAAGG/- delins 0.700 1.000 12 1999 2018
Attention deficit hyperactivity disorder
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
420 0.851 0.160 8 143818426 inframe deletion GGGCAAAGG/- delins 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.851 0.160 8 143818426 inframe deletion GGGCAAAGG/- delins 0.700 0
Radial polydactyly
CUI: C0345354
Disease: Radial polydactyly
3 0.851 0.160 8 143818426 inframe deletion GGGCAAAGG/- delins 0.700 0
Thymus Hyperplasia
CUI: C0040115
Disease: Thymus Hyperplasia
1 0.851 0.160 8 143818426 inframe deletion GGGCAAAGG/- delins 0.700 0
VERHEIJ SYNDROME
CUI: C3810023
Disease: VERHEIJ SYNDROME
11 0.851 0.160 8 143818426 inframe deletion GGGCAAAGG/- delins 0.700 0