MECOM, MDS1 and EVI1 complex locus, 2122

N. diseases: 191; N. variants: 57
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: rs4955665
rs4955665
3 169637231 intron variant T/C snv 0.42
CUI: C0040420
Disease: Tonometry
Tonometry
0.700 1.000 2 2018 2018
dbSNP: rs34781085
rs34781085
3 169646811 intron variant T/C snv 0.29
CUI: C0040420
Disease: Tonometry
Tonometry
0.700 1.000 1 2018 2018
dbSNP: rs73174309
rs73174309
3 169477878 intron variant C/T snv 0.20
CUI: C0040420
Disease: Tonometry
Tonometry
0.700 1.000 1 2018 2018