rs786205636, BBS5

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
CUI: C0752166
Disease: Bardet-Biedl Syndrome
163 0.827 0.320 2 169493750 missense variant G/A snv 0.700 0
Diastrophic dysplasia
CUI: C0220726
Disease: Diastrophic dysplasia
63 0.827 0.320 2 169493750 missense variant G/A snv 0.700 0
Keratosis Follicularis
CUI: C0022595
Disease: Keratosis Follicularis
21 0.827 0.320 2 169493750 missense variant G/A snv 0.700 0
Melanocortin 4 Receptor Deficiency
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
28 0.827 0.320 2 169493750 missense variant G/A snv 0.700 0
Received therapy or drug for
CUI: C0332154
Disease: Received therapy or drug for
5 0.827 0.320 2 169493750 missense variant G/A snv 0.700 0
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.827 0.320 2 169493750 missense variant G/A snv 0.700 0
Rinderpest
CUI: C0035637
Disease: Rinderpest
5 0.827 0.320 2 169493750 missense variant G/A snv 0.700 0