rs758522600, BBS10

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.
BARDET-BIEDL SYNDROME 10
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
94 0.851 0.240 12 76347023 frameshift variant CTAA/- delins 4.0E-06 2.8E-05 0.700 1.000 1 2016 2016
Asphyxiating Thoracic Dystrophy 1
CUI: C4551856
Disease: Asphyxiating Thoracic Dystrophy 1
11 0.851 0.240 12 76347023 frameshift variant CTAA/- delins 4.0E-06 2.8E-05 0.700 0
Chylous Ascites
CUI: C0008732
Disease: Chylous Ascites
1 0.851 0.240 12 76347023 frameshift variant CTAA/- delins 4.0E-06 2.8E-05 0.700 0
Narrow thorax
CUI: C0426790
Disease: Narrow thorax
18 0.851 0.240 12 76347023 frameshift variant CTAA/- delins 4.0E-06 2.8E-05 0.700 0
Polycystic Kidney Diseases
CUI: C0022680
Disease: Polycystic Kidney Diseases
54 0.851 0.240 12 76347023 frameshift variant CTAA/- delins 4.0E-06 2.8E-05 0.700 0
Polydactyly
CUI: C0152427
Disease: Polydactyly
43 0.851 0.240 12 76347023 frameshift variant CTAA/- delins 4.0E-06 2.8E-05 0.700 0
Short ribs
CUI: C0426817
Disease: Short ribs
27 0.851 0.240 12 76347023 frameshift variant CTAA/- delins 4.0E-06 2.8E-05 0.700 0