Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519466
rs1057519466
HEXA
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060499680
rs1060499680
GNPTAB
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060499681
rs1060499681
GNPTAB
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569547876
rs1569547876
MAGT1
A 0.700 CausalMutation CLINVAR

dbSNP: rs281864996
rs281864996
GNPTAB
A 0.700 GeneticVariation CLINVAR

dbSNP: rs572115942
rs572115942
PHKG2
A 0.700 CausalMutation CLINVAR

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: rs886039799
rs886039799
BBS9
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554174425
rs1554174425
RHAG
C 0.700 CausalMutation CLINVAR

dbSNP: rs1567608853
rs1567608853
CYBA
C 0.700 CausalMutation CLINVAR

dbSNP: rs878853315
rs878853315
GBA
C 0.700 GeneticVariation CLINVAR

dbSNP: rs878853320
rs878853320
GBA
C 0.700 GeneticVariation CLINVAR

dbSNP: rs886039794
rs886039794
LRRCC1 ; LOC105375933
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555269154
rs1555269154
GNPTAB
CACTTTGTG 0.700 GeneticVariation CLINVAR

dbSNP: rs1555271865
rs1555271865
GNPTAB
CT 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516674
rs1057516674
G6PC
G 0.700 CausalMutation CLINVAR

dbSNP: rs1060499685
rs1060499685
GNPTAB
G 0.700 GeneticVariation CLINVAR

dbSNP: rs121918460
rs121918460
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs1276519904
rs1276519904
H3-3A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1567705064
rs1567705064
G6PC
G 0.700 CausalMutation CLINVAR

dbSNP: rs768849283
rs768849283
PRF1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs879253740
rs879253740
NPC2 ; ISCA2
G 0.700 CausalMutation CLINVAR

dbSNP: rs886039908
rs886039908
GPC3
G 0.700 GeneticVariation CLINVAR

dbSNP: rs387906309
rs387906309
HEXA
GGATA 0.700 CausalMutation CLINVAR Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. 22723944

2012