Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557043622
rs1557043622
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854

2019

dbSNP: rs867410737
rs867410737
T 0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781

2018

dbSNP: rs1010184002
rs1010184002
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1043679457
rs1043679457
G 0.700 CausalMutation CLINVAR

dbSNP: rs1057518834
rs1057518834
DMD
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307993
rs1085307993
T 0.700 GeneticVariation CLINVAR

dbSNP: rs119103263
rs119103263
T 0.700 CausalMutation CLINVAR

dbSNP: rs119473033
rs119473033
T 0.700 CausalMutation CLINVAR

dbSNP: rs121912854
rs121912854
A 0.700 CausalMutation CLINVAR

dbSNP: rs121912855
rs121912855
A 0.700 CausalMutation CLINVAR

dbSNP: rs1339616347
rs1339616347
WRN
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553655558
rs1553655558
G 0.700 CausalMutation CLINVAR

dbSNP: rs1554888939
rs1554888939
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555377415
rs1555377415
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555727493
rs1555727493
TGGCGGCGGCGGCG 0.700 CausalMutation CLINVAR

dbSNP: rs1569355102
rs1569355102
T 0.700 CausalMutation CLINVAR

dbSNP: rs199469465
rs199469465
T 0.700 CausalMutation CLINVAR

dbSNP: rs267606826
rs267606826
A 0.700 CausalMutation CLINVAR

dbSNP: rs312262690
rs312262690
AG 0.700 CausalMutation CLINVAR

dbSNP: rs368869806
rs368869806
T 0.700 CausalMutation CLINVAR

dbSNP: rs387907145
rs387907145
A 0.700 CausalMutation CLINVAR

dbSNP: rs397507520
rs397507520
C 0.700 CausalMutation CLINVAR

dbSNP: rs483352822
rs483352822
G 0.700 CausalMutation CLINVAR

dbSNP: rs61753219
rs61753219
A 0.700 GeneticVariation CLINVAR

dbSNP: rs748106387
rs748106387
A 0.700 CausalMutation CLINVAR