rs1567552713, MYH3

N. diseases: 7
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.
Dysmorphism
CUI: C1737329
Disease: Dysmorphism
16 0.827 0.120 17 10633590 splice donor variant C/T snv 0.700 0
Finger contracture
CUI: C1411006
Disease: Finger contracture
2 0.827 0.120 17 10633590 splice donor variant C/T snv 0.700 0
Multiple Pterygium Syndrome, Autosomal Dominant
CUI: C1867440
Disease: Multiple Pterygium Syndrome, Autosomal Dominant
12 0.827 0.120 17 10633590 splice donor variant C/T snv 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.827 0.120 17 10633590 splice donor variant C/T snv 0.700 0
Short neck
CUI: C0521525
Disease: Short neck
29 0.827 0.120 17 10633590 splice donor variant C/T snv 0.700 0
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
CUI: C1848934
Disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
19 0.827 0.120 17 10633590 splice donor variant C/T snv 0.700 0
Syndactyly of fingers
CUI: C0221352
Disease: Syndactyly of fingers
12 0.827 0.120 17 10633590 splice donor variant C/T snv 0.700 0