Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796051877
rs796051877
GAA
A 0.700 CausalMutation CLINVAR c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype. 26160551

2015

dbSNP: rs1057518776
rs1057518776
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518934
rs1057518934
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518962
rs1057518962
DMD
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060503383
rs1060503383
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1131692154
rs1131692154
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121918467
rs121918467
T 0.700 CausalMutation CLINVAR

dbSNP: rs1247665387
rs1247665387
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553603732
rs1553603732
DES
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554121671
rs1554121671
TGAAG 0.700 GeneticVariation CLINVAR

dbSNP: rs1555247805
rs1555247805
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555740394
rs1555740394
CCCCACCA 0.700 CausalMutation CLINVAR

dbSNP: rs1555740650
rs1555740650
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555741826
rs1555741826
G 0.700 CausalMutation CLINVAR

dbSNP: rs1555928716
rs1555928716
A 0.700 CausalMutation CLINVAR

dbSNP: rs1559931177
rs1559931177
A 0.700 CausalMutation CLINVAR

dbSNP: rs1564919048
rs1564919048
A 0.700 CausalMutation CLINVAR

dbSNP: rs28934908
rs28934908
A 0.700 GeneticVariation CLINVAR

dbSNP: rs376103091
rs376103091
A 0.700 CausalMutation CLINVAR

dbSNP: rs386834055
rs386834055
TA 0.700 CausalMutation CLINVAR

dbSNP: rs398123640
rs398123640
A 0.700 GeneticVariation CLINVAR

dbSNP: rs421016
rs421016
GBA
G 0.700 GeneticVariation CLINVAR

dbSNP: rs421016
rs421016
GBA
C 0.700 GeneticVariation CLINVAR

dbSNP: rs587778779
rs587778779
T 0.700 CausalMutation CLINVAR

dbSNP: rs61750240
rs61750240
A 0.700 CausalMutation CLINVAR