rs267606841, GALNT3

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.
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
18 0.882 0.120 2 165749801 missense variant A/C snv 0.700 0
Hyperostosis-hyperphosphatemia syndrome
CUI: C1853256
Disease: Hyperostosis-hyperphosphatemia syndrome
1 0.882 0.120 2 165749801 missense variant A/C snv 0.010 1.000 1 2014 2014
Metabolic Diseases
CUI: C0025517
Disease: Metabolic Diseases
50 0.882 0.120 2 165749801 missense variant A/C snv 0.010 1.000 1 2014 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.882 0.120 2 165749801 missense variant A/C snv 0.010 1.000 1 2014 2014
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
CUI: C1876187
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
3 0.882 0.120 2 165749801 missense variant A/C snv 0.010 1.000 1 2014 2014