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: rs775899653
rs775899653 		11 108343231 frameshift variant TCTC/-;TC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 1996 2009
dbSNP: rs587782847
rs587782847 		11 108365382 frameshift variant AACTGAAAGGA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 2003 2017
dbSNP: rs876660743
rs876660743 		11 108333941 inframe deletion TGT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 1999 2011
dbSNP: rs587782114
rs587782114 		11 108317500 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 2008 2015
dbSNP: rs876658415
rs876658415 		11 108315872 missense variant A/G snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 2001 2012
dbSNP: rs1282099124
rs1282099124 		11 108326163 stop gained C/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2003 2006
dbSNP: rs149934734
rs149934734 		1.000 11 108444879 intron variant C/T snv 1.6E-02
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.700 1.000 2 2018 2019
dbSNP: rs149934734
rs149934734 		1.000 11 108444879 intron variant C/T snv 1.6E-02
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		Neoplasms 0.700 1.000 2 2018 2019
dbSNP: rs529296539
rs529296539 		11 108345819 missense variant G/A;C;T snv 1.2E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 1998 2009
dbSNP: rs773516672
rs773516672 		11 108330355 stop gained G/A snv 1.6E-05 1.4E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 1998 1998
dbSNP: rs7934719
rs7934719 		11 108471137 upstream gene variant C/T snv 0.44
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 2 2016 2019
dbSNP: rs876658831
rs876658831 		11 108310168 stop gained C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2000 2015
dbSNP: rs876659235
rs876659235 		11 108365340 frameshift variant T/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2006 2007
dbSNP: rs1131691254
rs1131691254 		11 108310176 frameshift variant -/T delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs192022
rs192022 		11 108378047 intron variant C/G;T snv
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs192022
rs192022 		11 108378047 intron variant C/G;T snv
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs192022
rs192022 		11 108378047 intron variant C/G;T snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs192022
rs192022 		11 108378047 intron variant C/G;T snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs192022
rs192022 		11 108378047 intron variant C/G;T snv
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		0.700 1.000 1 2016 2016
dbSNP: rs227041
rs227041 		11 108352074 intron variant C/A snv 0.52
CUI: C3547187
Disease: response to metformin
response to metformin 		0.700 1.000 1 2011 2011
dbSNP: rs227073
rs227073 		11 108341965 intron variant G/A;C;T snv
CUI: C3547187
Disease: response to metformin
response to metformin 		0.700 1.000 1 2011 2011
dbSNP: rs227077
rs227077 		11 108382525 intron variant C/A;T snv
CUI: C3547187
Disease: response to metformin
response to metformin 		0.700 1.000 1 2011 2011
dbSNP: rs34005627
rs34005627 		11 108430128 intron variant TTTTTTTT/-;TT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTT delins 0.36
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs419716
rs419716 		11 108350372 intron variant A/C;T snv
CUI: C3547187
Disease: response to metformin
response to metformin 		0.700 1.000 1 2011 2011
dbSNP: rs4237579
rs4237579 		11 108408474 intron variant A/G snv 0.54
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2018 2018