rs121965059, OAT

N. diseases: 4
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.
Gyrate Atrophy
CUI: C0018425
Disease: Gyrate Atrophy
35 0.925 0.080 10 124403892 missense variant G/A snv 1.6E-05 7.0E-06 0.710 1.000 7 1988 2013
GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA
CUI: C4017305
Disease: GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA
2 0.925 0.080 10 124403892 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0
Male infertility
CUI: C0021364
Disease: Male infertility
146 0.925 0.080 10 124403892 missense variant G/A snv 1.6E-05 7.0E-06 0.020 1.000 2 2005 2015
Congenital chromosomal disease
CUI: C0008626
Disease: Congenital chromosomal disease
47 0.925 0.080 10 124403892 missense variant G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2005 2005