rs386834053, MKS1

N. diseases: 2
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.
LEBER CONGENITAL AMAUROSIS 6 (disorder)
CUI: C1854260
Disease: LEBER CONGENITAL AMAUROSIS 6 (disorder)
19 0.925 0.320 17 58210980 missense variant C/T snv 2.0E-05 2.1E-05 0.700 0
Meckel syndrome type 1
CUI: C3714506
Disease: Meckel syndrome type 1
38 0.925 0.320 17 58210980 missense variant C/T snv 2.0E-05 2.1E-05 0.700 0