Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516036
rs1057516036
COL1A2
A 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs1010184002
rs1010184002
PEX6
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518930
rs1057518930
COL1A1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1555222973
rs1555222973
CREB3L1
T 0.700 CausalMutation CLINVAR

dbSNP: rs61753219
rs61753219
PEX6
A 0.700 GeneticVariation CLINVAR