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: rs113994049
rs113994049
0.882 0.160 3 184137637 missense variant G/A snv 2.1E-04 2.7E-04
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY
Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Endocrine System Diseases 0.710 1.000 1 2011 2011
dbSNP: rs113994055
rs113994055
0.925 0.120 3 184137974 missense variant C/T snv 7.0E-06
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY
Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs113994060
rs113994060
0.925 0.120 3 184140470 missense variant G/A snv
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY
Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011