rs606231302, 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.
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY
CUI: C4015186
Disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY
1 0.925 1 112917468 missense variant C/T snv 0.700 0
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT
CUI: C4016684
Disease: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT
5 0.925 1 112917468 missense variant C/T snv 0.700 0