Gene: PDGFRA ×
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: rs121908585
rs121908585
PDGFRA
9 0.827 0.080 4 54285926 missense variant A/T snv 0.800 0.952 21 2003 2018
dbSNP: rs121908586
rs121908586
PDGFRA
5 1.000 0.080 4 54274869 missense variant T/A;C snv 0.720 1.000 7 2003 2014
dbSNP: rs1057519700
rs1057519700
PDGFRA
1 4 54277981 missense variant C/A;G snv 0.710 1.000 3 2003 2006
dbSNP: rs121913264
rs121913264
PDGFRA
1 4 54285925 missense variant GA/AT mnv 0.700 1.000 3 2006 2014
dbSNP: rs121913265
rs121913265
PDGFRA
2 4 54285925 missense variant G/T snv 0.700 1.000 2 2012 2014
dbSNP: rs121913262
rs121913262
PDGFRA
1 4 54285925 inframe deletion GACATCATG/- del 0.700 1.000 1 2014 2014
dbSNP: rs121913267
rs121913267
PDGFRA
1 4 54285928 inframe deletion ATCATGCATGAT/- del 0.700 1.000 1 2014 2014
dbSNP: rs121913269
rs121913269
PDGFRA
1 4 54285921 inframe deletion GAGACA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1553906053
rs1553906053
PDGFRA
1 4 54285925 inframe deletion CATCATGCATGA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs587776793
rs587776793
PDGFRA
1 4 54285934 inframe deletion CATGATTCGAAC/- del 0.700 0
dbSNP: rs587776794
rs587776794
PDGFRA
1 4 54274863 protein altering variant -/AGAGGG delins 0.700 0
dbSNP: rs587776795
rs587776795
PDGFRA
1 4 54274865 inframe deletion GGGTCATTGAATCAA/- delins 0.700 0
dbSNP: rs606231209
rs606231209
PDGFRA
1 4 54274883 inframe deletion AGCCCAGATGGACATGAA/- del 0.700 0
dbSNP: rs756581500
rs756581500
PDGFRA
2 4 54290319 missense variant G/A snv 8.0E-06 1.4E-05 0.020 1.000 2 2007 2013
dbSNP: rs969139366
rs969139366
PDGFRA
3 4 54277974 missense variant T/C snv 3.5E-05 0.020 1.000 2 2017 2017
dbSNP: rs778015444
rs778015444
PDGFRA
2 1.000 0.040 4 54274917 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009