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: rs1060500186
rs1060500186
1.000 0.120 12 12717887 frameshift variant GACG/- delins
Multiple Endocrine Neoplasia, Type IV
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs121917832
rs121917832
0.925 0.200 12 12718066 stop gained G/A snv
Multiple Endocrine Neoplasia, Type IV
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs1555085575
rs1555085575
1.000 0.120 12 12718118 frameshift variant -/C delins
Multiple Endocrine Neoplasia, Type IV
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs532903617
rs532903617
1.000 0.120 12 12718106 stop gained C/G;T snv 4.0E-06 1.4E-05
Multiple Endocrine Neoplasia, Type IV
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs774454456
rs774454456
0.925 0.120 12 12717808 5 prime UTR variant AGAG/- delins 3.8E-04 3.8E-04
Multiple Endocrine Neoplasia, Type IV
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs777354267
rs777354267
1.000 0.120 12 12718045 missense variant C/T snv 4.0E-06 2.1E-05
Multiple Endocrine Neoplasia, Type IV
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs786201007
rs786201007
1.000 0.120 12 12717896 frameshift variant -/AGGCGGAGCACCCCAAGCC delins
Multiple Endocrine Neoplasia, Type IV
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs786201010
rs786201010
1.000 0.120 12 12717384 5 prime UTR variant TTCC/- delins
Multiple Endocrine Neoplasia, Type IV
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 0
dbSNP: rs786201011
rs786201011
1.000 0.120 12 12718211 frameshift variant CT/- delins
Multiple Endocrine Neoplasia, Type IV
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.700 0