rs606231310, SLC16A1

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.
Hyperinsulinemic hypoglycemia, familial, 7
CUI: C1864902
Disease: Hyperinsulinemic hypoglycemia, familial, 7
3 0.925 0.040 1 112917424 stop gained G/A snv 4.0E-06 0.700 0
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL RECESSIVE
CUI: C4016683
Disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL RECESSIVE
3 0.925 0.040 1 112917424 stop gained G/A snv 4.0E-06 0.700 0