Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516030
rs1057516030
DYRK1A ; LOC105372797
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		TA 0.700 CausalMutation CLINVAR

dbSNP: rs1057518934
rs1057518934
HERC2
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518963
rs1057518963
OPHN1
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519439
rs1057519439
DNAH7
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1114167295
rs1114167295
MAGED2
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167296
rs1114167296
TMEM47
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167297
rs1114167297
KIF5B
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167298
rs1114167298
GRM7
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1131692230
rs1131692230
PDHA1
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1172486173
rs1172486173
QARS1 ; MIR6890
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1223073957
rs1223073957
MED25
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		A 0.700 CausalMutation CLINVAR

dbSNP: rs142239530
rs142239530
STIM1
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs146539065
rs146539065
SEPSECS
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553212868
rs1553212868
POGZ
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1553770577
rs1553770577
UBA5 ; NPHP3-ACAD11
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554603293
rs1554603293
CHD7
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555038029
rs1555038029
KMT2A
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555454508
rs1555454508
SPG11
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		ATC 0.700 CausalMutation CLINVAR

dbSNP: rs1555493029
rs1555493029
COG7
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555497604
rs1555497604
COG7
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555954284
rs1555954284
DDX3X
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1557612048
rs1557612048
ARID1A
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1559307932
rs1559307932
PDE6D
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		AC 0.700 GeneticVariation CLINVAR

dbSNP: rs1560755661
rs1560755661
TBCK
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		A 0.700 CausalMutation CLINVAR