Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918130
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.700 0
dbSNP: rs121918130
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06
CUI: C0746102
Disease: Chronic lung disease
Chronic lung disease 		0.700 0
dbSNP: rs121918130
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.700 0
dbSNP: rs121918130
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.700 0
dbSNP: rs121918130
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.700 0
dbSNP: rs121918130
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs121918130
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06
CUI: C0345394
Disease: Hypoplasia of spine
Hypoplasia of spine 		0.700 0
dbSNP: rs121918130
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06
CUI: C0432163
Disease: Defect of vertebral segmentation
Defect of vertebral segmentation 		0.700 0
dbSNP: rs121918130
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06
CUI: C4021862
Disease: Absent epiphyses
Absent epiphyses 		0.700 0
dbSNP: rs121918130
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		0.700 0
dbSNP: rs121918130
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		0.700 0
dbSNP: rs121918130
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06
CUI: C2112942
Disease: Preaxial foot polydactyly
Preaxial foot polydactyly 		0.700 0
dbSNP: rs121918130
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		0.700 0
dbSNP: rs121918130
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06
CUI: C0033785
Disease: Pseudarthrosis
Pseudarthrosis 		0.700 0
dbSNP: rs121918130
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06
CUI: C4025010
Disease: Coat hanger sign of ribs
Coat hanger sign of ribs 		0.700 0
dbSNP: rs121918130
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06
CUI: C0345375
Disease: Congenital hypoplasia of femur
Congenital hypoplasia of femur 		0.700 0
dbSNP: rs13297509
rs13297509
INPP5E
1.000 0.160 9 136431830 missense variant G/A;T snv 3.8E-05
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.700 0
dbSNP: rs121918129
rs121918129
INPP5E
1.000 0.160 9 136432562 missense variant C/T snv 3.2E-05
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.800 1.000 1 2009 2017
dbSNP: rs121918130
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2009 2009
dbSNP: rs1564430716
rs1564430716
INPP5E
1.000 0.160 9 136429766 stop gained A/C snv
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2009 2009
dbSNP: rs121918128
rs121918128
INPP5E
1.000 0.160 9 136430391 missense variant C/T snv 6.1E-06 7.0E-06
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.800 1.000 0 2009 2017
dbSNP: rs121918130
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.800 1.000 0 2009 2017
dbSNP: rs746212325
rs746212325
INPP5E
1.000 0.160 9 136434769 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 1.2E-05
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.800 1.000 1 2011 2015
dbSNP: rs1431917892
rs1431917892
INPP5E
1.000 0.160 9 136429688 frameshift variant C/- del 4.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2013 2013
dbSNP: rs746867724
rs746867724
INPP5E
1.000 0.160 9 136431090 missense variant G/A snv 2.8E-05
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1 		0.700 1.000 1 2015 2015