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: rs1558003446
rs1558003446
1.000 0.080 1 160123327 frameshift variant -/TC delins
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification
Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1558010146
rs1558010146
1.000 0.080 1 160139668 stop gained G/T snv
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification
Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0