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: rs864309488
rs864309488
0.776 0.440 6 24777296 missense variant A/G snv
CUI: C4225188
Disease: MEIER-GORLIN SYNDROME 6
MEIER-GORLIN SYNDROME 6
0.800 0
dbSNP: rs864309486
rs864309486
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C4225188
Disease: MEIER-GORLIN SYNDROME 6
MEIER-GORLIN SYNDROME 6
0.700 0
dbSNP: rs864309487
rs864309487
0.763 0.280 6 24777279 frameshift variant TCAA/- delins
CUI: C4225188
Disease: MEIER-GORLIN SYNDROME 6
MEIER-GORLIN SYNDROME 6
0.700 0