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: C0014175
Disease: Endometriosis
Endometriosis
0.020 1.000 2 2016 2020
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
Necrotizing enterocolitis in fetus OR newborn
0.010 < 0.001 1 2016 2016
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.010 1.000 1 2016 2016
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
0.010 1.000 1 2016 2016
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0746883
Disease: Febrile Neutropenia
Febrile Neutropenia
0.010 1.000 1 2016 2016
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis
0.010 1.000 1 2016 2016
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.010 1.000 1 2016 2016
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.010 1.000 1 2016 2016
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome
0.010 1.000 1 2016 2016
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.020 1.000 2 2015 2015
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: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
0.010 < 0.001 1 2015 2015
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0018965
Disease: Hematuria
Hematuria
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: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1
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: C0011882
Disease: Diabetic Neuropathies
Diabetic Neuropathies
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: C0018995
Disease: Hemochromatosis
Hemochromatosis
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: 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: 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: 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: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
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: C0029463
Disease: Osteosarcoma
Osteosarcoma
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: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
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: C0877015
Disease: Pelvic Organ Prolapse
Pelvic Organ Prolapse
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: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
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: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F
0.020 1.000 2 2013 2016