Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039794
rs886039794
CUI: C3549567
Disease: Echogenic kidneys
Echogenic kidneys
C 0.700 GeneticVariation CLINVAR

dbSNP: rs886039794
rs886039794
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia
C 0.700 GeneticVariation CLINVAR

dbSNP: rs886039794
rs886039794
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
C 0.700 GeneticVariation CLINVAR

dbSNP: rs886039794
rs886039794
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
C 0.700 GeneticVariation CLINVAR

dbSNP: rs886039794
rs886039794
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
C 0.700 GeneticVariation CLINVAR

dbSNP: rs886039794
rs886039794
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
C 0.700 GeneticVariation CLINVAR

dbSNP: rs886039794
rs886039794
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
C 0.700 GeneticVariation CLINVAR

dbSNP: rs886039794
rs886039794
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME
C 0.700 GeneticVariation CLINVAR