rs1057516029, TRIO

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.
Attached earlobe
CUI: C4021375
Disease: Attached earlobe
3 0.882 0.160 5 14290809 stop gained G/T snv 0.700 0
Freckles
CUI: C0016689
Disease: Freckles
10 0.882 0.160 5 14290809 stop gained G/T snv 0.700 0
Hyperplasia of the premaxilla
CUI: C4073210
Disease: Hyperplasia of the premaxilla
1 0.882 0.160 5 14290809 stop gained G/T snv 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
CUI: C4310740
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 44
13 0.882 0.160 5 14290809 stop gained G/T snv 0.700 0
Retrognathia
CUI: C3494422
Disease: Retrognathia
11 0.882 0.160 5 14290809 stop gained G/T snv 0.700 0
Thyroid Hormone Resistance Syndrome
CUI: C2940786
Disease: Thyroid Hormone Resistance Syndrome
5 0.882 0.160 5 14290809 stop gained G/T snv 0.700 0