rs200203460, CLPB

N. diseases: 9
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.
3-methylglutaconic aciduria type 7
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
20 0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05 0.700 1.000 4 2015 2017
Anxiety
CUI: C0003467
Disease: Anxiety
287 0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05 0.700 0
Cleft palate, isolated
CUI: C1837218
Disease: Cleft palate, isolated
70 0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05 0.700 0
Clinodactyly of fingers
CUI: C0265610
Disease: Clinodactyly of fingers
7 0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05 0.700 0
Diminished sweating
CUI: C0553721
Disease: Diminished sweating
7 0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05 0.700 0
Ectodermal Dysplasia
CUI: C0013575
Disease: Ectodermal Dysplasia
16 0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05 0.700 0
Ulnar polydactyly of fingers
CUI: C0431904
Disease: Ulnar polydactyly of fingers
11 0.776 0.400 11 72302312 stop gained G/A;C;T snv 2.8E-05 0.700 0