rs572115942, PHKG2

N. diseases: 7
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Delayed Puberty
CUI: C0034012
Disease: Delayed Puberty
21 0.925 0.240 16 30756714 missense variant G/A snv 8.0E-05 7.7E-05 0.700 0
Growth failure
CUI: C0878787
Disease: Growth failure
7 0.925 0.240 16 30756714 missense variant G/A snv 8.0E-05 7.7E-05 0.700 0
Hepatic glycogen storage
CUI: C1855790
Disease: Hepatic glycogen storage
1 0.925 0.240 16 30756714 missense variant G/A snv 8.0E-05 7.7E-05 0.700 0
Hepatomegaly
CUI: C0019209
Disease: Hepatomegaly
30 0.925 0.240 16 30756714 missense variant G/A snv 8.0E-05 7.7E-05 0.700 0
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
108 0.925 0.240 16 30756714 missense variant G/A snv 8.0E-05 7.7E-05 0.700 0
Mauriac's syndrome
CUI: C0221005
Disease: Mauriac's syndrome
2 0.925 0.240 16 30756714 missense variant G/A snv 8.0E-05 7.7E-05 0.700 0
Neutrophil count decreased
CUI: C0853697
Disease: Neutrophil count decreased
5 0.925 0.240 16 30756714 missense variant G/A snv 8.0E-05 7.7E-05 0.700 0