rs1488635637, MKS1

N. diseases: 6
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 0.827 0.360 17 58208003 splice acceptor variant T/C;G snv 7.0E-06 0.700 0
JOUBERT SYNDROME 28
CUI: C4310705
Disease: JOUBERT SYNDROME 28
24 0.827 0.360 17 58208003 splice acceptor variant T/C;G snv 7.0E-06 0.700 0
Meckel syndrome type 1
CUI: C3714506
Disease: Meckel syndrome type 1
38 0.827 0.360 17 58208003 splice acceptor variant T/C;G snv 7.0E-06 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.827 0.360 17 58208003 splice acceptor variant T/C;G snv 7.0E-06 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.827 0.360 17 58208003 splice acceptor variant T/C;G snv 7.0E-06 0.700 0
Polydactyly
CUI: C0152427
Disease: Polydactyly
43 0.827 0.360 17 58208003 splice acceptor variant T/C;G snv 7.0E-06 0.700 0