rs143141689, ORC1

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
MEIER-GORLIN SYNDROME 1
CUI: C4552001
Disease: MEIER-GORLIN SYNDROME 1
7 0.882 0.280 1 52397773 missense variant C/T snv 9.5E-05 1.6E-04 0.800 1.000 6 2011 2015
EAR, PATELLA, SHORT STATURE SYNDROME
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
12 0.882 0.280 1 52397773 missense variant C/T snv 9.5E-05 1.6E-04 0.710 1.000 5 2011 2015
MUNGAN SYNDROME
CUI: C1969653
Disease: MUNGAN SYNDROME
6 0.882 0.280 1 52397773 missense variant C/T snv 9.5E-05 1.6E-04 0.010 1.000 1 2015 2015