Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518345
rs1057518345
ADNP
C 0.700 CausalMutation CLINVAR

dbSNP: rs1064795760
rs1064795760
BICD2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs12720458
rs12720458
KCNQ1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
A 0.700 CausalMutation CLINVAR

dbSNP: rs137854539
rs137854539
GNAS
T 0.700 GeneticVariation CLINVAR

dbSNP: rs137854889
rs137854889
ZMPSTE24
GT 0.700 CausalMutation CLINVAR

dbSNP: rs1555462347
rs1555462347
USP7
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555727493
rs1555727493
KMT2B
TGGCGGCGGCGGCG 0.700 CausalMutation CLINVAR

dbSNP: rs1555954284
rs1555954284
DDX3X
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1569518070
rs1569518070
COL6A1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs190521996
rs190521996
PMM2
C 0.700 CausalMutation CLINVAR

dbSNP: rs200661329
rs200661329
PIGQ
A 0.700 GeneticVariation CLINVAR

dbSNP: rs587783772
rs587783772
MTM1
T 0.700 CausalMutation CLINVAR

dbSNP: rs61750420
rs61750420
PEX1
T 0.700 CausalMutation CLINVAR

dbSNP: rs796052243
rs796052243
SPATA5
T 0.700 GeneticVariation CLINVAR

dbSNP: rs80338701
rs80338701
PMM2
A 0.700 CausalMutation CLINVAR

dbSNP: rs866294686
rs866294686
TRIM8 ; LOC105378460
T 0.700 GeneticVariation CLINVAR