rs147030232, BBS2

N. diseases: 8
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 2 (disorder)
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
53 0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06 0.700 1.000 1 2011 2011
Cone Dystrophy
CUI: C0730290
Disease: Cone Dystrophy
31 0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06 0.700 0
Polydactyly
CUI: C0152427
Disease: Polydactyly
43 0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06 0.700 0
RETINITIS PIGMENTOSA 74
CUI: C4225281
Disease: RETINITIS PIGMENTOSA 74
8 0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06 0.700 0