rs137853105, MKS1

N. diseases: 4
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 13
CUI: C2673873
Disease: BARDET-BIEDL SYNDROME 13
24 0.882 0.160 17 58206479 missense variant A/C snv 5.6E-05 2.8E-05 0.800 1.000 1 2008 2008
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.882 0.160 17 58206479 missense variant A/C snv 5.6E-05 2.8E-05 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.882 0.160 17 58206479 missense variant A/C snv 5.6E-05 2.8E-05 0.700 0
Polydactyly
CUI: C0152427
Disease: Polydactyly
43 0.882 0.160 17 58206479 missense variant A/C snv 5.6E-05 2.8E-05 0.700 0