rs121908175, 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
CUI: C0752166
Disease: Bardet-Biedl Syndrome
163 0.790 0.160 16 56519791 stop gained G/C snv 5.2E-05 2.8E-05 0.700 1.000 3 2001 2010
Bardet-Biedl syndrome 2 (disorder)
CUI: C2936863
Disease: Bardet-Biedl syndrome 2 (disorder)
53 0.790 0.160 16 56519791 stop gained G/C snv 5.2E-05 2.8E-05 0.700 1.000 1 2011 2011
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.790 0.160 16 56519791 stop gained G/C snv 5.2E-05 2.8E-05 0.700 1.000 1 2019 2019
BARDET-BIEDL SYNDROME 2/6, DIGENIC
CUI: C4016908
Disease: BARDET-BIEDL SYNDROME 2/6, DIGENIC
5 0.790 0.160 16 56519791 stop gained G/C snv 5.2E-05 2.8E-05 0.700 0
Melanocortin 4 Receptor Deficiency
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
28 0.790 0.160 16 56519791 stop gained G/C snv 5.2E-05 2.8E-05 0.700 0
obsolete Rod-cone dystrophy
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
41 0.790 0.160 16 56519791 stop gained G/C snv 5.2E-05 2.8E-05 0.700 0
Polydactyly
CUI: C0152427
Disease: Polydactyly
43 0.790 0.160 16 56519791 stop gained G/C snv 5.2E-05 2.8E-05 0.700 0
RETINITIS PIGMENTOSA 74
CUI: C4225281
Disease: RETINITIS PIGMENTOSA 74
8 0.790 0.160 16 56519791 stop gained G/C snv 5.2E-05 2.8E-05 0.700 0