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: rs387906652
rs387906652
SLC20A2
2 0.925 0.080 8 42417960 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs397509381
rs397509381
PDGFRB
2 0.925 0.040 5 150124300 missense variant A/G snv 0.700 0
dbSNP: rs397509382
rs397509382
PDGFRB
2 0.925 0.040 5 150117796 missense variant G/A snv 3.2E-05 7.0E-06 0.700 0
dbSNP: rs1283745894
rs1283745894
PDGFRB
1 1.000 0.040 5 150124250 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs199522807
rs199522807
PDGFRB
1 1.000 0.040 5 150134933 stop gained G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs397515633
rs397515633
PDGFB
2 0.925 0.040 22 39231633 stop gained G/A snv 0.010 1.000 1 2015 2015