Gene: MACROD2 ×
Source: CURATED ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs6110458
rs6110458
MACROD2
1 1.000 0.040 20 14882326 intron variant C/T snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs1475531
rs1475531
MACROD2 ; MACROD2-AS1
1 1.000 0.040 20 14886776 intron variant G/T snv 0.62 0.700 1.000 1 2012 2012
dbSNP: rs14135
rs14135
MACROD2 ; MACROD2-AS1
1 1.000 0.040 20 14884510 non coding transcript exon variant T/C snv 0.26 0.700 1.000 1 2012 2012
dbSNP: rs4141463
rs4141463
MACROD2
1 0.925 0.040 20 14766825 intron variant T/C snv 0.50 0.820 0.667 1 2010 2019