rs1057518891, CHD7

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.
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.851 0.120 8 60854479 stop gained C/T snv 0.700 0
Long narrow head
CUI: C0221358
Disease: Long narrow head
26 0.851 0.120 8 60854479 stop gained C/T snv 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.851 0.120 8 60854479 stop gained C/T snv 0.700 0
Poor coordination
CUI: C0563243
Disease: Poor coordination
8 0.851 0.120 8 60854479 stop gained C/T snv 0.700 0
Progressive hearing impairment
CUI: C1842138
Disease: Progressive hearing impairment
2 0.851 0.120 8 60854479 stop gained C/T snv 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.851 0.120 8 60854479 stop gained C/T snv 0.700 0