Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057520504
rs1057520504
HNF1A
0.882 0.080 12 120994238 missense variant G/A snv
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		0.020 0.500 2 2009 2015
dbSNP: rs1057520504
rs1057520504
HNF1A
0.882 0.080 12 120994238 missense variant G/A snv
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 1.000 1 2009 2009
dbSNP: rs1057520504
rs1057520504
HNF1A
0.882 0.080 12 120994238 missense variant G/A snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 < 0.001 1 2015 2015
dbSNP: rs1057520504
rs1057520504
HNF1A
0.882 0.080 12 120994238 missense variant G/A snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 1.000 1 2009 2009