Source: BEFREE ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060499866
rs1060499866
HNF1A
2 0.925 0.080 12 120993532 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs483353044
rs483353044
HNF1A
4 0.882 0.080 12 120999288 missense variant G/A;C snv 4.9E-04 0.010 1.000 1 2014 2014