rs557849165, MYH3

N. diseases: 9
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 0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03 0.700 0
Fused cervical vertebrae
CUI: C3887527
Disease: Fused cervical vertebrae
2 0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03 0.700 0
Klippel-Feil Syndrome
CUI: C0022738
Disease: Klippel-Feil Syndrome
5 0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03 0.700 0
Multiple Pterygium Syndrome, Autosomal Dominant
12 0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03 0.700 0
Neck webbing
CUI: C0221217
Disease: Neck webbing
19 0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03 0.700 0
Short neck
CUI: C0521525
Disease: Short neck
29 0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03 0.700 0
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
19 0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03 0.700 0
Syndactyly of fingers
CUI: C0221352
Disease: Syndactyly of fingers
12 0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03 0.700 0