rs1567564042, MYH3

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.
Dysmorphism
CUI: C1737329
Disease: Dysmorphism
16 0.827 0.120 17 10654924 stop gained A/C snv 0.700 0
Multiple Pterygium Syndrome, Autosomal Dominant
12 0.827 0.120 17 10654924 stop gained A/C snv 0.700 0
Neck webbing
CUI: C0221217
Disease: Neck webbing
19 0.827 0.120 17 10654924 stop gained A/C snv 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.827 0.120 17 10654924 stop gained A/C snv 0.700 0
Short neck
CUI: C0521525
Disease: Short neck
29 0.827 0.120 17 10654924 stop gained A/C snv 0.700 0
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
19 0.827 0.120 17 10654924 stop gained A/C snv 0.700 0