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: rs387906620
rs387906620
NT5E
1.000 0.120 6 85487458 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C1859372
Disease: Calcification of Joints and Arteries
Calcification of Joints and Arteries 		0.800 1.000 2 2011 2014
dbSNP: rs373328681
rs373328681
NT5E
1.000 0.120 6 85471336 stop gained C/A;T snv 3.2E-05; 8.0E-06
CUI: C1859372
Disease: Calcification of Joints and Arteries
Calcification of Joints and Arteries 		0.700 0
dbSNP: rs774200574
rs774200574
NT5E
1.000 0.120 6 85493884 frameshift variant -/A delins 4.2E-05
CUI: C1859372
Disease: Calcification of Joints and Arteries
Calcification of Joints and Arteries 		0.700 0
dbSNP: rs1262403457
rs1262403457
NT5E
6 85493984 missense variant A/G snv 4.0E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.010 1.000 1 2002 2002
dbSNP: rs4431401
rs4431401
NT5E
6 85479802 intron variant T/C snv 0.46
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs6922
rs6922
NT5E
6 85495605 3 prime UTR variant T/G snv 0.74
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2016 2016
dbSNP: rs6922
rs6922
NT5E
6 85495605 3 prime UTR variant T/G snv 0.74
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2016 2016
dbSNP: rs9444348
rs9444348
NT5E
6 85465856 intron variant G/A snv 0.43
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs9444348
rs9444348
NT5E
6 85465856 intron variant G/A snv 0.43
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2015 2015