Source: ALL

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: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma
0.010 1.000 1 2010 2010
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain
0.010 1.000 1 2005 2005
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
Cleft Lip with or without Cleft Palate
0.010 1.000 1 2008 2008
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.010 1.000 1 2009 2009
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 < 0.001 1 2004 2004
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.010 1.000 1 2014 2014
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.010 1.000 1 2009 2009
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0029456
Disease: Osteoporosis
Osteoporosis
0.010 1.000 1 2014 2014
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C1861305
Disease: TARSAL-CARPAL COALITION SYNDROME
TARSAL-CARPAL COALITION SYNDROME
0.010 1.000 1 2019 2019
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension
0.010 1.000 1 2003 2003
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.010 1.000 1 2010 2010
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular
0.010 1.000 1 2007 2007
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
0.010 1.000 1 2017 2017
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
0.010 1.000 1 2014 2014
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease
0.010 1.000 1 2013 2013
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor
0.010 1.000 1 2009 2009
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease
0.010 1.000 1 2015 2015
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0403447
Disease: Chronic Kidney Insufficiency
Chronic Kidney Insufficiency
0.010 1.000 1 2009 2009
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis
0.010 1.000 1 2005 2005
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome
0.010 1.000 1 2010 2010
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
Familial multiple trichoepitheliomata
0.010 1.000 1 2009 2009
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
Precursor Cell Lymphoblastic Leukemia Lymphoma
0.010 1.000 1 2009 2009
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0024530
Disease: Malaria
Malaria
0.010 1.000 1 2009 2009
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0028960
Disease: Oligospermia
Oligospermia
0.010 1.000 1 2013 2013
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.010 1.000 1 2008 2008