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: rs11743810
rs11743810
EGR1
1.000 0.040 5 138466715 intron variant C/T snv 0.50 0.48
CUI: C0027092
Disease: Myopia
Myopia 		0.010 1.000 1 2016 2016
dbSNP: rs199646874
rs199646874
EGR1
1.000 0.080 5 138467255 missense variant C/A;G snv
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 1998 1998
dbSNP: rs374447937
rs374447937
EGR1
1.000 0.160 5 138465831 missense variant C/G snv 4.0E-06
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.010 1.000 1 2008 2008