Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs863224946
rs863224946
PDGFRB
0.925 0.040 5 150125501 missense variant G/C snv
CUI: C4225270
Disease: Kosaki overgrowth syndrome
Kosaki overgrowth syndrome 		0.830 1.000 0 2017 2019
dbSNP: rs397509381
rs397509381
PDGFRB
0.925 0.040 5 150124300 missense variant A/G snv
CUI: C3554321
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 		0.800 1.000 3 2013 2015
dbSNP: rs397509382
rs397509382
PDGFRB
0.925 0.040 5 150117796 missense variant G/A snv 3.2E-05 7.0E-06
CUI: C3554321
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 		0.800 1.000 3 2013 2015
dbSNP: rs367543286
rs367543286
PDGFRB
0.851 0.080 5 150125571 missense variant G/A snv 7.0E-06
CUI: C4551572
Disease: MYOFIBROMATOSIS, INFANTILE, 1
MYOFIBROMATOSIS, INFANTILE, 1 		0.800 1.000 2 2013 2017
dbSNP: rs1554108211
rs1554108211
PDGFRB
0.882 0.160 5 150124279 missense variant A/G snv
CUI: C1866182
Disease: Penttinen-Aula syndrome
Penttinen-Aula syndrome 		0.800 1.000 1 2015 2015
dbSNP: rs144050370
rs144050370
PDGFRB
0.851 0.080 5 150124295 missense variant G/T snv 1.2E-05 1.4E-05
CUI: C4551572
Disease: MYOFIBROMATOSIS, INFANTILE, 1
MYOFIBROMATOSIS, INFANTILE, 1 		0.800 0