rs745343884, BTD

N. diseases: 3
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.
Biotinidase Deficiency
CUI: C0220754
Disease: Biotinidase Deficiency
187 0.882 0.120 3 15644335 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.700 0
Acute gastroenteritis
CUI: C0267446
Disease: Acute gastroenteritis
1 0.882 0.120 3 15644335 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
Ketosis
CUI: C0022638
Disease: Ketosis
11 0.882 0.120 3 15644335 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018