OBSL1, obscurin like cytoskeletal adaptor 1, 23363

N. diseases: 64; N. variants: 13
Disease: Slender long bone ×
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: C1833144
Disease: Slender long bone
Slender long bone 		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: C1833144
Disease: Slender long bone
Slender long bone 		0.700 1.000 1 2019 2019