GLO1, glyoxalase I, 2739

N. diseases: 137; N. variants: 7
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: rs4746
rs4746 		0.708 0.400 6 38682852 missense variant T/A;G snv 0.36
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs774917188
rs774917188 		1.000 0.040 6 38677366 missense variant C/T snv 8.0E-06
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs1049346
rs1049346 		0.882 0.080 6 38703061 5 prime UTR variant G/A snv 0.50 0.54
CUI: C0857345
Disease: Late onset epilepsy
Late onset epilepsy 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1049346
rs1049346 		0.882 0.080 6 38703061 5 prime UTR variant G/A snv 0.50 0.54
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1130534
rs1130534 		1.000 0.040 6 38682812 synonymous variant T/A snv 0.16 0.18
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs4746
rs4746 		0.708 0.400 6 38682852 missense variant T/A;G snv 0.36
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs12209477
rs12209477 		6 38702023 intron variant C/G;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018