rs121918130, INPP5E

N. diseases: 18
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Joubert syndrome 1
CUI: C4551568
Disease: Joubert syndrome 1
31 0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 0.800 1.000 4 2009 2017
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
187 0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 0.700 1.000 1 2009 2009
Absent epiphyses
CUI: C4021862
Disease: Absent epiphyses
1 0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 0.700 0
Chronic lung disease
CUI: C0746102
Disease: Chronic lung disease
12 0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 0.700 0
Coat hanger sign of ribs
CUI: C4025010
Disease: Coat hanger sign of ribs
1 0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 0.700 0
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
44 0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 0.700 0
Congenital hemivertebra
CUI: C0265677
Disease: Congenital hemivertebra
4 0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 0.700 0
Congenital hypoplasia of femur
CUI: C0345375
Disease: Congenital hypoplasia of femur
3 0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 0.700 0
Defect of vertebral segmentation
CUI: C0432163
Disease: Defect of vertebral segmentation
6 0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 0.700 0
Hypoplasia of spine
CUI: C0345394
Disease: Hypoplasia of spine
1 0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 0.700 0
Lung Diseases, Interstitial
CUI: C0206062
Disease: Lung Diseases, Interstitial
144 0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 0.700 0
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
56 0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 0.700 0
Preaxial foot polydactyly
CUI: C2112942
Disease: Preaxial foot polydactyly
5 0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 0.700 0
Pseudarthrosis
CUI: C0033785
Disease: Pseudarthrosis
1 0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 0.700 0
Respiratory Failure
CUI: C1145670
Disease: Respiratory Failure
23 0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 0.700 0
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
65 0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 0.700 0
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
75 0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 0.700 0