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: rs62132014
rs62132014
19 48401432 intron variant C/G;T snv
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.700 1.000 1 2018 2018
dbSNP: rs1569064110
rs1569064110
1.000 19 48414517 missense variant G/A snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
0.700 0
dbSNP: rs1569065861
rs1569065861
1.000 19 48419766 missense variant G/C snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
0.700 0
dbSNP: rs1569065866
rs1569065866
1.000 19 48419803 missense variant A/C snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
0.700 0
dbSNP: rs10419023
rs10419023
1.000 0.040 19 48427965 intron variant C/T snv 0.13
CUI: C0014175
Disease: Endometriosis
Endometriosis
Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2017 2017
dbSNP: rs886040861
rs886040861
0.925 0.040 19 48419722 missense variant G/A snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs886040861
rs886040861
0.925 0.040 19 48419722 missense variant G/A snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
0.800 1.000 1 2016 2016
dbSNP: rs1259830926
rs1259830926
1.000 0.080 19 48405124 missense variant G/A snv 1.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 0