OBSL1, obscurin like cytoskeletal adaptor 1, 23363

N. diseases: 64; N. variants: 13
Disease: Long philtrum ×
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: rs1559155954
rs1559155954 		0.851 0.200 2 219568211 frameshift variant -/A delins
CUI: C1865014
Disease: Long philtrum
Long philtrum 		0.700 1.000 1 2019 2019
dbSNP: rs760929207
rs760929207 		0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06
CUI: C1865014
Disease: Long philtrum
Long philtrum 		0.700 1.000 1 2019 2019