Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs367543286
rs367543286
PDGFRB
5 0.851 0.080 5 150125571 missense variant G/A snv 7.0E-06 0.730 1.000 4 2013 2018
dbSNP: rs864309711
rs864309711
PDGFRB
5 0.827 0.120 5 150124275 missense variant G/C;T snv 0.720 1.000 3 2016 2019
dbSNP: rs1060499540
rs1060499540
PDGFRB
1 1.000 0.040 5 150120925 missense variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs1060499541
rs1060499541
PDGFRB
1 1.000 0.040 5 150126578 inframe insertion -/ATC ins 0.700 1.000 1 2017 2017
dbSNP: rs1060499542
rs1060499542
PDGFRB
5 0.827 0.120 5 150125556 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1060499543
rs1060499543
PDGFRB
1 1.000 0.040 5 150125550 inframe deletion CCTTCC/- del 0.700 1.000 1 2017 2017
dbSNP: rs121912678
rs121912678
ACVR1
8 0.851 0.080 2 157774114 missense variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs144050370
rs144050370
PDGFRB
4 0.851 0.080 5 150124295 missense variant G/T snv 1.2E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs1554108211
rs1554108211
PDGFRB
3 0.882 0.160 5 150124279 missense variant A/G snv 0.010 1.000 1 2019 2019
dbSNP: rs797044887
rs797044887
PDGFRB
2 0.925 0.040 5 150124277 missense variant T/G snv 0.010 1.000 1 2019 2019