Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119456962
rs119456962
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C2673885
Disease:
Renal hepatic pancreatic dysplasia Dandy Walker cyst
A 0.700 CausalMutation CLINVAR
dbSNP: rs182135982
rs182135982
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C2673885
Disease:
Renal hepatic pancreatic dysplasia Dandy Walker cyst
T 0.700 CausalMutation CLINVAR
dbSNP: rs751527253
rs751527253
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C2673885
Disease:
Renal hepatic pancreatic dysplasia Dandy Walker cyst
C 0.700 CausalMutation CLINVAR
dbSNP: rs780020801
rs780020801
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C2673885
Disease:
Renal hepatic pancreatic dysplasia Dandy Walker cyst
A 0.700 CausalMutation CLINVAR
dbSNP: rs781180515
rs781180515
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C2673885
Disease:
Renal hepatic pancreatic dysplasia Dandy Walker cyst
T 0.700 GeneticVariation CLINVAR