rs760929207, OBSL1

N. diseases: 12
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Delayed bone age
CUI: C0541764
Disease: Delayed bone age
14 0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06 0.700 1.000 1 2019 2019
Enlarged thorax
CUI: C4020962
Disease: Enlarged thorax
4 0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06 0.700 1.000 1 2019 2019
Joint hyperflexibility
CUI: C3553764
Disease: Joint hyperflexibility
12 0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06 0.700 1.000 1 2019 2019
Long narrow head
CUI: C0221358
Disease: Long narrow head
26 0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06 0.700 1.000 1 2019 2019
Long philtrum
CUI: C1865014
Disease: Long philtrum
16 0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06 0.700 1.000 1 2019 2019
Lordosis
CUI: C0024003
Disease: Lordosis
15 0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06 0.700 1.000 1 2019 2019
Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
11 0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06 0.700 1.000 1 2019 2019
Pointed chin
CUI: C1844505
Disease: Pointed chin
13 0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06 0.700 1.000 1 2019 2019
Short neck
CUI: C0521525
Disease: Short neck
29 0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06 0.700 1.000 1 2019 2019
Short stature
CUI: C0349588
Disease: Short stature
292 0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06 0.700 1.000 1 2019 2019
Short thorax
CUI: C0426789
Disease: Short thorax
8 0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06 0.700 1.000 1 2019 2019
Slender long bone
CUI: C1833144
Disease: Slender long bone
5 0.925 0.200 2 219568050 splice donor variant ACCTTTGACTG/- delins 8.1E-06 7.0E-06 0.700 1.000 1 2019 2019