Source: CURATED

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: rs1150781
rs1150781
HMGA1 ; SMIM29
6 34246545 missense variant C/A;G snv 9.0E-06; 0.85
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 2 2011 2019
dbSNP: rs1150781
rs1150781
HMGA1 ; SMIM29
6 34246545 missense variant C/A;G snv 9.0E-06; 0.85
CUI: C0489786
Disease: Height
Height 		0.700 1.000 2 2011 2011
dbSNP: rs35381162
rs35381162
HMGA1
6 34243565 intron variant T/- delins 0.90 0.86
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs73744859
rs73744859
HMGA1 ; MIR6835
6 34240413 intron variant T/C;G snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019