rs119103286, TTC8

N. diseases: 5
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
CUI: C0752166
Disease: Bardet-Biedl Syndrome
163 0.851 0.280 14 88841196 missense variant G/A snv 6.4E-05 3.5E-05 0.700 0
BARDET-BIEDL SYNDROME 8
CUI: C1859566
Disease: BARDET-BIEDL SYNDROME 8
4 0.851 0.280 14 88841196 missense variant G/A snv 6.4E-05 3.5E-05 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.851 0.280 14 88841196 missense variant G/A snv 6.4E-05 3.5E-05 0.700 0
Postaxial foot polydactyly
CUI: C2112129
Disease: Postaxial foot polydactyly
4 0.851 0.280 14 88841196 missense variant G/A snv 6.4E-05 3.5E-05 0.700 0
Truncal obesity
CUI: C4551560
Disease: Truncal obesity
4 0.851 0.280 14 88841196 missense variant G/A snv 6.4E-05 3.5E-05 0.700 0