Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554651469
rs1554651469
0.925 0.160 9 35658025 upstream gene variant -/CCCCAGCTTCACAGAGT delins
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs199476103
rs199476103
0.851 0.200 9 35657948 non coding transcript exon variant T/C snv 8.7E-04; 2.3E-05 1.5E-03
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs786204684
rs786204684
0.851 0.200 9 35657955 non coding transcript exon variant G/A snv 3.1E-05 4.2E-05
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0