OBSL1, obscurin like cytoskeletal adaptor 1, 23363

N. diseases: 64; N. variants: 13
Disease: Triangular face ×
Source: ALL
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: rs1559155800
rs1559155800 		1.000 0.200 2 219568150 missense variant C/T snv
CUI: C1835884
Disease: Triangular face
Triangular face 		0.700 1.000 1 2019 2019
dbSNP: rs1559155954
rs1559155954 		0.851 0.200 2 219568211 frameshift variant -/A delins
CUI: C1835884
Disease: Triangular face
Triangular face 		0.700 1.000 1 2019 2019