Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894419
rs104894419
LIG4
A 0.700 CausalMutation CLINVAR Extreme growth failure is a common presentation of ligase IV deficiency. 24123394

2014
dbSNP: rs587779349
rs587779349
BRCA2
G 0.700 CausalMutation CLINVAR Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050

2014
dbSNP: rs587779351
rs587779351
XRCC4
C 0.700 CausalMutation CLINVAR Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050

2014
dbSNP: rs759838407
rs759838407
LIG4
C 0.700 CausalMutation CLINVAR Extreme growth failure is a common presentation of ligase IV deficiency. 24123394

2014
dbSNP: rs104894419
rs104894419
LIG4
A 0.700 CausalMutation CLINVAR DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. 11779494

2001
dbSNP: rs137853219
rs137853219
CSHL1 ; GH1
T 0.700 CausalMutation CLINVAR

dbSNP: rs397514487
rs397514487
POC1A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs587777614
rs587777614
DNA2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs587779348
rs587779348
CRIPT
A 0.700 CausalMutation CLINVAR

dbSNP: rs587779356
rs587779356
CRIPT
AGG 0.700 CausalMutation CLINVAR