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: rs760929207
rs760929207
OBSL1
0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06
CUI: C0426789
Disease: Short thorax
Short thorax 		0.700 1.000 1 2019 2019
dbSNP: rs760929207
rs760929207
OBSL1
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
dbSNP: rs760929207
rs760929207
OBSL1
0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.700 1.000 1 2019 2019
dbSNP: rs760929207
rs760929207
OBSL1
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
dbSNP: rs760929207
rs760929207
OBSL1
0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06
CUI: C1844505
Disease: Pointed chin
Pointed chin 		0.700 1.000 1 2019 2019
dbSNP: rs760929207
rs760929207
OBSL1
0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		0.700 1.000 1 2019 2019
dbSNP: rs760929207
rs760929207
OBSL1
0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 1 2019 2019
dbSNP: rs760929207
rs760929207
OBSL1
0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06
CUI: C0024003
Disease: Lordosis
Lordosis 		0.700 1.000 1 2019 2019
dbSNP: rs760929207
rs760929207
OBSL1
0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		0.700 1.000 1 2019 2019
dbSNP: rs760929207
rs760929207
OBSL1
0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06
CUI: C0521525
Disease: Short neck
Short neck 		0.700 1.000 1 2019 2019
dbSNP: rs760929207
rs760929207
OBSL1
0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		0.700 1.000 1 2019 2019
dbSNP: rs760929207
rs760929207
OBSL1
0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		0.700 1.000 1 2019 2019