TST, thiosulfate sulfurtransferase, 7263

N. diseases: 91; N. variants: 10
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs130598
rs130598
22 37012094 intron variant T/C snv 0.62
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs130599
rs130599
22 37012678 intron variant T/C snv 0.62
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs130607
rs130607
22 37014926 intron variant T/A;C snv
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs5750366
rs5750366
22 37010360 upstream gene variant G/T snv 0.45
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs5750370
rs5750370
22 37016926 intron variant G/A snv 0.26
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs5756477
rs5756477
22 37011486 intron variant T/C snv 0.47
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs5756477
rs5756477
22 37011486 intron variant T/C snv 0.47
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 1.000 1 2009 2009
dbSNP: rs5756482
rs5756482
22 37013185 intron variant G/A snv 0.44
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 1 2019 2019
dbSNP: rs5756487
rs5756487
22 37020759 intron variant A/T snv 0.58
RDW - Red blood cell distribution width result
0.700 1.000 1 2019 2019
dbSNP: rs5756487
rs5756487
22 37020759 intron variant A/T snv 0.58
Red cell distribution width determination
0.700 1.000 1 2019 2019
dbSNP: rs774437307
rs774437307
1.000 0.040 22 37018437 missense variant T/C snv 8.0E-06
CUI: C1867326
Disease: RETINAL CONE DYSTROPHY 1
RETINAL CONE DYSTROPHY 1
Eye Diseases 0.010 1.000 1 1998 1998
dbSNP: rs775639597
rs775639597
1.000 0.040 22 37018333 missense variant A/G snv 8.0E-06
Retinitis punctata albescens (disorder)
Eye Diseases 0.010 1.000 1 1996 1996