rs1135401743, HAAO;MTA3

N. diseases: 11
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.
Abnormality of the ribs
CUI: C1842083
Disease: Abnormality of the ribs
5 0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2017 2017
Allanson Pantzar McLeod syndrome
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
23 0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2017 2017
Butterfly vertebrae
CUI: C1844752
Disease: Butterfly vertebrae
2 0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2017 2017
Defect of vertebral segmentation
CUI: C0432163
Disease: Defect of vertebral segmentation
6 0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2017 2017
Hypoplastic Left Heart Syndrome
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
7 0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2017 2017
Hypoplastic sacrum
CUI: C1970816
Disease: Hypoplastic sacrum
2 0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2017 2017
Sensorineural Hearing Loss (disorder)
111 0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2017 2017
Short 1st metacarpal
CUI: C1849311
Disease: Short 1st metacarpal
1 0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2017 2017
Spina Bifida
CUI: C0080178
Disease: Spina Bifida
61 0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2017 2017
Tethered Cord Syndrome
CUI: C0080218
Disease: Tethered Cord Syndrome
2 0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2017 2017
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
2 0.776 0.320 2 42769785 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2017 2017