rs754279998, MKS1

N. diseases: 10
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 0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05 0.700 1.000 3 2014 2016
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
187 0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05 0.700 1.000 3 2014 2016
JOUBERT SYNDROME 28
CUI: C4310705
Disease: JOUBERT SYNDROME 28
24 0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05 0.700 1.000 3 2014 2016
Meckel syndrome type 1
CUI: C3714506
Disease: Meckel syndrome type 1
38 0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05 0.700 1.000 3 2014 2016
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
105 0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05 0.700 1.000 3 2014 2016
Chronic Kidney Diseases
CUI: C1561643
Disease: Chronic Kidney Diseases
306 0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05 0.700 0
Polydactyly
CUI: C0152427
Disease: Polydactyly
43 0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05 0.700 0
Rotary Nystagmus
CUI: C0240595
Disease: Rotary Nystagmus
3 0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05 0.700 0
Short extremities
CUI: C0239399
Disease: Short extremities
10 0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05 0.700 0