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: rs9405157
rs9405157
6 1988690 intron variant T/C snv 0.24
CUI: C0040420
Disease: Tonometry
Tonometry
0.700 1.000 2 2018 2018
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: 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: 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