rs1555212248, HNF1A

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.
Maturity onset diabetes mellitus in young
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
49 0.925 0.080 12 120996570 frameshift variant T/- del 0.700 0
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
CUI: C1838100
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)
48 0.925 0.080 12 120996570 frameshift variant T/- del 0.700 0