Disease: OVARIOLEUKODYSTROPHY ×
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: rs104894425
rs104894425 		0.882 0.120 14 75005906 missense variant A/G snv 3.2E-05 7.0E-05
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY 		Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs104894427
rs104894427 		1.000 0.120 14 75004850 stop gained C/T snv 1.2E-05; 1.2E-05 1.4E-05
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY 		Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs104894428
rs104894428 		0.925 0.120 14 75004815 missense variant C/A;T snv 1.2E-05
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY 		Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs113994014
rs113994014 		0.925 0.120 14 75005875 frameshift variant ATGGCT/TG delins
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY 		Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Endocrine System Diseases 0.700 0