rs11558492, GNPAT

N. diseases: 5
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.
Rhizomelic chondrodysplasia punctata, type 2
CUI: C1857242
Disease: Rhizomelic chondrodysplasia punctata, type 2
3 0.827 0.200 1 231272345 missense variant A/G;T snv 0.16 0.700 1.000 3 1998 2012
Hemochromatosis
CUI: C0018995
Disease: Hemochromatosis
45 0.827 0.200 1 231272345 missense variant A/G;T snv 0.16 0.020 0.500 2 2017 2017
HEMOCHROMATOSIS, TYPE 1
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
62 0.827 0.200 1 231272345 missense variant A/G;T snv 0.16 0.020 0.500 2 2017 2017
Iron Overload
CUI: C0282193
Disease: Iron Overload
53 0.827 0.200 1 231272345 missense variant A/G;T snv 0.16 0.020 1.000 2 2015 2017
Fibrosis, Liver
CUI: C0239946
Disease: Fibrosis, Liver
64 0.827 0.200 1 231272345 missense variant A/G;T snv 0.16 0.010 1 2017 2017