rs1060499542, PDGFRB

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.
Infantile myofibromatosis
CUI: C0432284
Disease: Infantile myofibromatosis
10 0.827 0.120 5 150125556 missense variant A/G snv 0.700 1.000 1 2017 2017
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
37 0.827 0.120 5 150125556 missense variant A/G snv 0.700 0
MYOFIBROMATOSIS, INFANTILE, 1
CUI: C4551572
Disease: MYOFIBROMATOSIS, INFANTILE, 1
5 0.827 0.120 5 150125556 missense variant A/G snv 0.700 0
Kosaki overgrowth syndrome
CUI: C4225270
Disease: Kosaki overgrowth syndrome
2 0.827 0.120 5 150125556 missense variant A/G snv 0.010 1.000 1 2019 2019
Overgrowth Syndrome
CUI: C2986703
Disease: Overgrowth Syndrome
6 0.827 0.120 5 150125556 missense variant A/G snv 0.010 1.000 1 2017 2017