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: rs869025609
rs869025609
1.000 10 47865 missense variant G/A snv
CUI: C4225210
Disease: OOCYTE MATURATION DEFECT 2
OOCYTE MATURATION DEFECT 2
0.800 1.000 2 2016 2016
dbSNP: rs1057520306
rs1057520306
1.000 10 47679 missense variant G/A snv
CUI: C4225210
Disease: OOCYTE MATURATION DEFECT 2
OOCYTE MATURATION DEFECT 2
0.800 0
dbSNP: rs869025271
rs869025271
1.000 10 47706 missense variant A/G snv
CUI: C4225210
Disease: OOCYTE MATURATION DEFECT 2
OOCYTE MATURATION DEFECT 2
0.800 0
dbSNP: rs869025272
rs869025272
1.000 10 47143 missense variant C/T snv
CUI: C4225210
Disease: OOCYTE MATURATION DEFECT 2
OOCYTE MATURATION DEFECT 2
0.800 0
dbSNP: rs869025273
rs869025273
1.000 10 49234 missense variant C/T snv
CUI: C4225210
Disease: OOCYTE MATURATION DEFECT 2
OOCYTE MATURATION DEFECT 2
0.800 0
dbSNP: rs781853492
rs781853492
1.000 10 47764 missense variant T/C snv
CUI: C4225210
Disease: OOCYTE MATURATION DEFECT 2
OOCYTE MATURATION DEFECT 2
0.700 1.000 2 2016 2016
dbSNP: rs782269374
rs782269374
1.000 10 47629 missense variant C/T snv
CUI: C4225210
Disease: OOCYTE MATURATION DEFECT 2
OOCYTE MATURATION DEFECT 2
0.700 1.000 2 2016 2016
dbSNP: rs782486119
rs782486119
1.000 10 47608 missense variant G/A snv
CUI: C4225210
Disease: OOCYTE MATURATION DEFECT 2
OOCYTE MATURATION DEFECT 2
0.700 1.000 2 2016 2016
dbSNP: rs869025610
rs869025610
1.000 10 47607 missense variant C/T snv
CUI: C4225210
Disease: OOCYTE MATURATION DEFECT 2
OOCYTE MATURATION DEFECT 2
0.700 1.000 2 2016 2016
dbSNP: rs869025611
rs869025611
1.000 10 47304 missense variant A/G snv
CUI: C4225210
Disease: OOCYTE MATURATION DEFECT 2
OOCYTE MATURATION DEFECT 2
0.700 1.000 2 2016 2016
dbSNP: rs869025612
rs869025612
1.000 10 47492 missense variant C/T snv
CUI: C4225210
Disease: OOCYTE MATURATION DEFECT 2
OOCYTE MATURATION DEFECT 2
0.700 1.000 2 2016 2016
dbSNP: rs1057520307
rs1057520307
1.000 10 48870 start lost GCGGAGTCGATGGCATGTTCA/- delins
CUI: C4225210
Disease: OOCYTE MATURATION DEFECT 2
OOCYTE MATURATION DEFECT 2
0.700 0
dbSNP: rs1270068662
rs1270068662
1.000 10 47349 missense variant T/C snv
CUI: C4225210
Disease: OOCYTE MATURATION DEFECT 2
OOCYTE MATURATION DEFECT 2
0.700 0
dbSNP: rs782246853
rs782246853
1.000 10 47966 frameshift variant C/-;CC delins
CUI: C4225210
Disease: OOCYTE MATURATION DEFECT 2
OOCYTE MATURATION DEFECT 2
0.700 0