Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518731
rs1057518731
SMARCD2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518733
rs1057518733
SMARCD2
G 0.700 CausalMutation CLINVAR

dbSNP: rs1555580263
rs1555580263
SMARCD2
GAGGTAGAACCTTATCTGCCATCTTC 0.700 CausalMutation CLINVAR

dbSNP: rs760325316
rs760325316
CEBPE
A 0.700 CausalMutation CLINVAR

dbSNP: rs758858068
rs758858068
ESR2 ; SYNE2
0.010 GeneticVariation BEFREE We further show that the heterozygous mutation p.Val218Ala in <i>CEBPE</i> causes SGD through prevention of nuclear localization of the protein product. 29651288

2018
dbSNP: rs763585589
rs763585589
ESR2 ; SYNE2
0.010 GeneticVariation BEFREE We further show that the heterozygous mutation p.Val218Ala in <i>CEBPE</i> causes SGD through prevention of nuclear localization of the protein product. 29651288

2018