rs200956636, RAB27A

N. diseases: 5
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.
Coughing
CUI: C0010200
Disease: Coughing
16 0.925 0.280 15 55205623 stop gained G/A snv 6.8E-05 6.3E-05 0.700 0
Fever
CUI: C0015967
Disease: Fever
66 0.925 0.280 15 55205623 stop gained G/A snv 6.8E-05 6.3E-05 0.700 0
Generalized seizures
CUI: C0234533
Disease: Generalized seizures
13 0.925 0.280 15 55205623 stop gained G/A snv 6.8E-05 6.3E-05 0.700 0
Large clumps of pigment irregularly distributed along hair shaft
CUI: C4025315
Disease: Large clumps of pigment irregularly distributed along hair shaft
1 0.925 0.280 15 55205623 stop gained G/A snv 6.8E-05 6.3E-05 0.700 0
GRISCELLI SYNDROME, TYPE 2
CUI: C1868679
Disease: GRISCELLI SYNDROME, TYPE 2
11 0.925 0.280 15 55205623 stop gained G/A snv 6.8E-05 6.3E-05 0.700 1.000 7 2000 2014