rs775011495, GLDN

N. diseases: 5
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.
Breathing dysregulation
CUI: C3808046
Disease: Breathing dysregulation
8 0.925 0.040 15 51404403 stop gained G/A snv 1.6E-05 7.0E-06 0.700 0
Congenital contracture
CUI: C0332878
Disease: Congenital contracture
3 0.925 0.040 15 51404403 stop gained G/A snv 1.6E-05 7.0E-06 0.700 0
Flexion contracture
CUI: C0333068
Disease: Flexion contracture
32 0.925 0.040 15 51404403 stop gained G/A snv 1.6E-05 7.0E-06 0.700 0
LETHAL CONGENITAL CONTRACTURE SYNDROME 11
CUI: C4310670
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 11
7 0.925 0.040 15 51404403 stop gained G/A snv 1.6E-05 7.0E-06 0.700 0
Polyhydramnios
CUI: C0020224
Disease: Polyhydramnios
28 0.925 0.040 15 51404403 stop gained G/A snv 1.6E-05 7.0E-06 0.700 0