GMDS, GDP-mannose 4,6-dehydratase, 2762

N. diseases: 33; N. variants: 14
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: rs115986297
rs115986297 		6 2050557 intron variant A/C;G snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 2 2016 2019
dbSNP: rs9405157
rs9405157 		6 1988690 intron variant T/C snv 0.24
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 2 2018 2018
dbSNP: rs115986297
rs115986297 		6 2050557 intron variant A/C;G snv
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2016 2016
dbSNP: rs115986297
rs115986297 		6 2050557 intron variant A/C;G snv
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2016 2016
dbSNP: rs11969985
rs11969985 		1.000 0.040 6 1922673 intron variant G/A snv 0.18
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		Eye Diseases 0.700 1.000 1 2014 2014
dbSNP: rs17134767
rs17134767 		6 2195682 intron variant T/C snv 0.31
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs17134767
rs17134767 		6 2195682 intron variant T/C snv 0.31
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs3778519
rs3778519 		6 1771278 intron variant C/T snv 0.26
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs3778523
rs3778523 		6 1777530 intron variant T/C snv 0.45
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs62390617
rs62390617 		6 1623392 downstream gene variant G/A;C snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs6914086
rs6914086 		6 2095801 intron variant T/C snv 0.58
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs722585
rs722585 		6 1775629 intron variant G/A snv 0.25
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs722585
rs722585 		6 1775629 intron variant G/A snv 0.25
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs7757144
rs7757144 		6 1997631 intron variant A/G;T snv
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs9378319
rs9378319 		6 2053443 intron variant T/C snv 0.19
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs9378671
rs9378671 		6 2040937 intron variant T/C snv 0.21
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs9392348
rs9392348 		1.000 0.040 6 1989370 intron variant G/A snv 0.20
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		Eye Diseases 0.700 1.000 1 2018 2018
dbSNP: rs9503012
rs9503012 		1.000 0.040 6 1707020 intron variant C/T snv 0.63
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		Eye Diseases 0.010 1.000 1 2017 2017