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: rs113994038
rs113994038
0.925 0.120 2 27364579 missense variant A/G snv 1.4E-05
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY
Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs113994040
rs113994040
0.925 0.120 2 27364507 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY
Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Endocrine System Diseases 0.700 0