Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514760
rs397514760
RPSA ; SNORA62
0.800 GeneticVariation UNIPROT Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. 23579497

2013
dbSNP: rs397514761
rs397514761
RPSA ; SNORA62
0.800 GeneticVariation UNIPROT Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. 23579497

2013
dbSNP: rs397514762
rs397514762
RPSA ; SNORA6
0.800 GeneticVariation UNIPROT Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. 23579497

2013
dbSNP: rs397514763
rs397514763
RPSA ; SNORA6
0.800 GeneticVariation UNIPROT Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. 23579497

2013
dbSNP: rs397514760
rs397514760
RPSA ; SNORA62
T 0.800 CausalMutation CLINVAR

dbSNP: rs397514760
rs397514760
RPSA ; SNORA62
G 0.800 CausalMutation CLINVAR

dbSNP: rs397514761
rs397514761
RPSA ; SNORA62
T 0.800 CausalMutation CLINVAR

dbSNP: rs397514762
rs397514762
RPSA ; SNORA6
A 0.800 CausalMutation CLINVAR

dbSNP: rs397514763
rs397514763
RPSA ; SNORA6
T 0.800 CausalMutation CLINVAR

dbSNP: rs397514759
rs397514759
RPSA ; SNORA6
T 0.700 CausalMutation CLINVAR

dbSNP: rs398122389
rs398122389
RPSA
GGTCAT 0.700 CausalMutation CLINVAR

dbSNP: rs1217691063
rs1217691063
MTHFR
0.010 GeneticVariation BEFREE We aimed to investigate the association of Hcy concentration with intracranial atherosclerosis (ICAS) and extracranial AS (ECAS) in hypertensive patients without stroke in Chinese population and to explore modified effect of methylenetetrahydrofolate reductase (MTHFR) C677T on their relationship. 29330520

2018
dbSNP: rs182052
rs182052
ADIPOQ
0.010 GeneticVariation BEFREE The binary logistic regression analysis showed that the AG/AA genotype of the rs2241767 (OR = 2.242, 95% CI: 1.037-4.878, P = 0.040) and the AG/GG genotype of the rs182052 (OR = 1.822, 95% CI: 1.111-2.987, P = 0.017) were closely related to the risk of ICAS after adjusting for conventional cardiovascular risk factors. 27224208

2017
dbSNP: rs2241767
rs2241767
ADIPOQ ; ADIPOQ-AS1
0.010 GeneticVariation BEFREE The binary logistic regression analysis showed that the AG/AA genotype of the rs2241767</span> (OR = 2.242, 95% CI: 1.037-4.878, P = 0.040) and the AG/GG genotype of the rs182052 (OR = 1.822, 95% CI: 1.111-2.987, P = 0.017) were closely related to the risk of ICAS after adjusting for conventional cardiovascular risk factors. 27224208

2017