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: rs191903670
rs191903670
PFKFB4
3 48540620 intron variant A/T snv 1.1E-02
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs191903670
rs191903670
PFKFB4
3 48540620 intron variant A/T snv 1.1E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs74780677
rs74780677
COL7A1 ; PFKFB4 ; UCN2
3 48564341 3 prime UTR variant A/G snv 1.5E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs9839959
rs9839959
PFKFB4 ; UCN2
3 48562465 3 prime UTR variant G/A snv 6.4E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9839959
rs9839959
PFKFB4 ; UCN2
3 48562465 3 prime UTR variant G/A snv 6.4E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012