rs1559155954, OBSL1

N. diseases: 9
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.
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.851 0.200 2 219568211 frameshift variant -/A delins 0.700 1.000 1 2019 2019
Enlarged thorax
CUI: C4020962
Disease: Enlarged thorax
4 0.851 0.200 2 219568211 frameshift variant -/A delins 0.700 1.000 1 2019 2019
Frontal bossing
CUI: C0221354
Disease: Frontal bossing
22 0.851 0.200 2 219568211 frameshift variant -/A delins 0.700 1.000 1 2019 2019
Long narrow head
CUI: C0221358
Disease: Long narrow head
26 0.851 0.200 2 219568211 frameshift variant -/A delins 0.700 1.000 1 2019 2019
Long philtrum
CUI: C1865014
Disease: Long philtrum
16 0.851 0.200 2 219568211 frameshift variant -/A delins 0.700 1.000 1 2019 2019
Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
11 0.851 0.200 2 219568211 frameshift variant -/A delins 0.700 1.000 1 2019 2019
Pointed chin
CUI: C1844505
Disease: Pointed chin
13 0.851 0.200 2 219568211 frameshift variant -/A delins 0.700 1.000 1 2019 2019
Short thorax
CUI: C0426789
Disease: Short thorax
8 0.851 0.200 2 219568211 frameshift variant -/A delins 0.700 1.000 1 2019 2019
Triangular face
CUI: C1835884
Disease: Triangular face
16 0.851 0.200 2 219568211 frameshift variant -/A delins 0.700 1.000 1 2019 2019