Source: ALL

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: rs776793516
rs776793516
HNF1A
0.925 0.080 12 120997492 frameshift variant CA/- delins 4.0E-06
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.700 1.000 7 1997 2014
dbSNP: rs137853238
rs137853238
HNF1A
0.807 0.200 12 120994265 missense variant G/A snv
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.700 1.000 6 1997 2009
dbSNP: rs1057524908
rs1057524908
HNF1A
0.925 0.080 12 120993686 frameshift variant -/C delins
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.700 1.000 4 2000 2013
dbSNP: rs1565886545
rs1565886545
HNF1A
0.925 0.080 12 120996261 splice acceptor variant G/A;C snv
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.700 1.000 3 2009 2013
dbSNP: rs137853240
rs137853240
HNF1A
0.807 0.080 12 120994405 missense variant G/A snv 1.4E-05
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.010 1.000 1 2005 2005