rs774568856, PGM3

N. diseases: 4
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.
Desbuquois syndrome
CUI: C0432242
Disease: Desbuquois syndrome
3 0.882 0.200 6 83174481 missense variant A/G snv 1.7E-05 7.0E-06 0.010 1.000 1 2017 2017
Osteochondrodysplasias
CUI: C0029422
Disease: Osteochondrodysplasias
26 0.882 0.200 6 83174481 missense variant A/G snv 1.7E-05 7.0E-06 0.010 1.000 1 2017 2017
Pancytopenia
CUI: C0030312
Disease: Pancytopenia
15 0.882 0.200 6 83174481 missense variant A/G snv 1.7E-05 7.0E-06 0.010 1.000 1 2017 2017
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
65 0.882 0.200 6 83174481 missense variant A/G snv 1.7E-05 7.0E-06 0.010 1.000 1 2017 2017