Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs557849165
rs557849165
MYH3
0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03
CUI: C1848934
Disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME 		0.700 0
dbSNP: rs557849165
rs557849165
MYH3
0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03
CUI: C0521525
Disease: Short neck
Short neck 		0.700 0
dbSNP: rs557849165
rs557849165
MYH3
0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.700 0
dbSNP: rs557849165
rs557849165
MYH3
0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.700 0
dbSNP: rs557849165
rs557849165
MYH3
0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03
CUI: C3887527
Disease: Fused cervical vertebrae
Fused cervical vertebrae 		0.700 0
dbSNP: rs557849165
rs557849165
MYH3
0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		0.700 0
dbSNP: rs557849165
rs557849165
MYH3
0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03
CUI: C1867440
Disease: Multiple Pterygium Syndrome, Autosomal Dominant
Multiple Pterygium Syndrome, Autosomal Dominant 		0.700 0
dbSNP: rs557849165
rs557849165
MYH3
0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.700 0
dbSNP: rs557849165
rs557849165
MYH3
0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		0.700 0