rs1559155800, OBSL1

N. diseases: 7
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 1.000 0.200 2 219568150 missense variant C/T snv 0.700 1.000 1 2019 2019
Enlarged thorax
CUI: C4020962
Disease: Enlarged thorax
4 1.000 0.200 2 219568150 missense variant C/T snv 0.700 1.000 1 2019 2019
Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
11 1.000 0.200 2 219568150 missense variant C/T snv 0.700 1.000 1 2019 2019
Short stature
CUI: C0349588
Disease: Short stature
292 1.000 0.200 2 219568150 missense variant C/T snv 0.700 1.000 1 2019 2019
Short thorax
CUI: C0426789
Disease: Short thorax
8 1.000 0.200 2 219568150 missense variant C/T snv 0.700 1.000 1 2019 2019
Slender long bone
CUI: C1833144
Disease: Slender long bone
5 1.000 0.200 2 219568150 missense variant C/T snv 0.700 1.000 1 2019 2019
Triangular face
CUI: C1835884
Disease: Triangular face
16 1.000 0.200 2 219568150 missense variant C/T snv 0.700 1.000 1 2019 2019