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: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0155017
Disease: Color Blindness, Blue
Color Blindness, Blue 		0.010 1.000 1 2015 2015
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0553573
Disease: Primary infertility
Primary infertility 		0.010 1.000 1 2015 2015
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.010 1.000 1 2015 2015
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2015 2015
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.070 0.714 7 2008 2016
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.070 0.714 7 2008 2016
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0028754
Disease: Obesity
Obesity 		0.040 1.000 4 2007 2016
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.020 1.000 2 2009 2016
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.010 < 0.001 1 2016 2016
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0038362
Disease: Stomatitis
Stomatitis 		0.010 1.000 1 2016 2016
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.010 < 0.001 1 2016 2016
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2016 2016
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.100 0.895 19 2000 2017
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.100 0.889 18 2000 2017
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.040 0.750 4 2002 2017
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 1.000 4 2008 2017
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.040 1.000 4 2006 2017
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 1.000 4 2008 2017
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma 		0.030 1.000 3 2013 2017
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.030 1.000 3 2002 2017
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0025286
Disease: Meningioma
Meningioma 		0.020 1.000 2 2017 2017
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C1762616
Disease: Meningioma, benign, no ICD-O subtype
Meningioma, benign, no ICD-O subtype 		0.020 1.000 2 2017 2017
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C3714731
Disease: Early childhood caries
Early childhood caries 		0.010 1.000 1 2017 2017
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C3164407
Disease: Oligoasthenozoospermia
Oligoasthenozoospermia 		0.010 1.000 1 2017 2017
dbSNP: rs1801394
rs1801394
MTRR ; FASTKD3
0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		0.010 1.000 1 2017 2017