Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918552
rs121918552
CYCS
T 0.710 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs121918552
rs121918552
CYCS
0.710 GeneticVariation BEFREE THC4 is an autosomal dominant mild thrombocytopenia described in only one large family from New Zealand and due to a mutation (G41S) of the somatic isoform of the cytochrome c (CYCS) gene. 24326104

2014
dbSNP: rs724159947
rs724159947
ETV6
0.710 GeneticVariation BEFREE Whole-exome sequencing identified a heterozygous single-nucleotide change in ETV6 (ets variant 6), c.641C>T, encoding a p.Pro214Leu substitution in the central domain, segregating with thrombocytopenia and elevated MCV. 25807284

2015
dbSNP: rs724159947
rs724159947
ETV6
T 0.710 GeneticVariation CLINVAR Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 25581430

2015
dbSNP: rs786205155
rs786205155
ETV6
0.710 GeneticVariation BEFREE Here we identify a novel germline ETV6 p. L349P mutation in a kindred affected by thrombocytopenia and ALL. 26102509

2015
dbSNP: rs879255268
rs879255268
SRC
A 0.710 GeneticVariation CLINVAR

dbSNP: rs879255268
rs879255268
SRC
0.710 GeneticVariation BEFREE We now report a 5-year-old girl with syndromic thrombocytopenia due to the same SRC-E527K variant that occurs <i>de novo</i>. 31204551

2019
dbSNP: rs104894816
rs104894816
GATA1
G 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs1064797085
rs1064797085
FLI1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs121908064
rs121908064
CHRNE ; GP1BA
G 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs121909752
rs121909752
GP1BB ; SEPTIN5 ; SEPT5-GP1BB
A 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs1441937959
rs1441937959
EFL1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs146249964
rs146249964
MPL
A 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs1554162524
rs1554162524
ELOVL4
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554800065
rs1554800065
ANKRD26
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1556620697
rs1556620697
SH2D1A ; STAG2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1569008655
rs1569008655
RUNX1
A 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs1569061762
rs1569061762
RUNX1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1569061768
rs1569061768
RUNX1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs5030764
rs5030764
GP9
G 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs587776456
rs587776456
GATA1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs587778516
rs587778516
MPL
A 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs757788894
rs757788894
CLCN7
T 0.700 GeneticVariation CLINVAR

dbSNP: rs794727505
rs794727505
CLTA ; GNE
G 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs863223318
rs863223318
ANKRD26
T 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019